Pauli, Silke

[["dc.bibliographiccitation.firstpage","152"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Journal of the Neurological Sciences"],["dc.bibliographiccitation.lastpage","154"],["dc.bibliographiccitation.volume","331"],["dc.contributor.author","Schmidt, Holger"],["dc.contributor.author","Kretzschmar, Benedikt"],["dc.contributor.author","Lingor, Paul"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Schramm, Peter"],["dc.contributor.author","Otto, Markus"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2018-11-07T09:21:15Z"],["dc.date.available","2018-11-07T09:21:15Z"],["dc.date.issued","2013"],["dc.description.abstract","Adult-onset Alexander disease (AOAD) is a rare leukoencephalopathy affecting predominantly the brainstem and cervical cord with insidious onset of clinical features. Acute onset is very rare and has yet been described only twice, to our knowledge. We report a 32-year-old hitherto healthy male who, after excessive consumption of alcohol, presented with stroke-like onset of symptoms including rigidospasticity, loss of consciousness, and bulbar dysfunction. MRI features comprised bilateral T2-hyperintensities of frontal white matter and basal ganglia as well as atrophy of medulla oblongata with a peculiar \"tadpole\" appearance, a pattern characteristic of AOAD. Mutation analysis of the GFAP gene revealed a heterozygous de novo 9-bp microduplication in exon 1. Adult Alexander disease may present with stroke-like features. MRI patterns of chronic neurodegenerative conditions may be recognizable even in acute neurological emergencies. (C) 2013 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.jns.2013.05.006"],["dc.identifier.isi","000322415000030"],["dc.identifier.pmid","23706596"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29072"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","0022-510X"],["dc.title","Acute onset of adult Alexander disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1392"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","British Journal of Cancer"],["dc.bibliographiccitation.lastpage","1397"],["dc.bibliographiccitation.volume","112"],["dc.contributor.author","Kratz, Christian P."],["dc.contributor.author","Franke, L."],["dc.contributor.author","Peters, H."],["dc.contributor.author","Kohlschmidt, N."],["dc.contributor.author","Kazmierczak, B."],["dc.contributor.author","Finckh, U."],["dc.contributor.author","Bier, Andrea"],["dc.contributor.author","Eichhorn, B."],["dc.contributor.author","Blank, C."],["dc.contributor.author","Kraus, Cornelia"],["dc.contributor.author","Kohlhase, Juergen"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Wildhardt, G."],["dc.contributor.author","Kutsche, Kerstin"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Christmann, A."],["dc.contributor.author","Bachmann, N."],["dc.contributor.author","Mitter, D."],["dc.contributor.author","Cremer, F. W."],["dc.contributor.author","Mayer, K."],["dc.contributor.author","Daumer-Haas, C."],["dc.contributor.author","Nevinny-Stickel-Hinzpeter, C."],["dc.contributor.author","Oeffner, Frank"],["dc.contributor.author","Schlueter, G."],["dc.contributor.author","Gencik, M."],["dc.contributor.author","Ueberlacker, B."],["dc.contributor.author","Lissewski, Christina"],["dc.contributor.author","Schanze, I."],["dc.contributor.author","Greene, M. H."],["dc.contributor.author","Spix, C."],["dc.contributor.author","Zenker, Martin"],["dc.date.accessioned","2018-11-07T09:58:32Z"],["dc.date.available","2018-11-07T09:58:32Z"],["dc.date.issued","2015"],["dc.description.abstract","Background: Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause developmental disorders including Noonan, Costello, and cardio-facio-cutaneous syndromes. These 'RASopathies' also represent cancer-prone syndromes, but the quantitative cancer risks remain unknown. Methods: We investigated the occurrence of childhood cancer including benign and malignant tumours of the central nervous system in a group of 735 individuals with germline mutations in Ras signalling pathway genes by matching their information with the German Childhood Cancer Registry. Results: We observed 12 cases of cancer in the entire RASopathy cohort vs 1.12 expected (based on German population-based incidence rates). This corresponds to a 10.5-fold increased risk of all childhood cancers combined (standardised incidence ratio (SIR) = 10.5, 95% confidence interval = 5.4-18.3). The specific cancers included juvenile myelomonocytic leukaemia = 4; brain tumour = 3; acute lymphoblastic leukaemia = 2; rhabdomyosarcoma = 2; and neuroblastoma = 1. The childhood cancer SIR in Noonan syndrome patients was 8.1, whereas that for Costello syndrome patients was 42.4. Conclusions: These data comprise the first quantitative evidence documenting that the germline mutations in Ras signalling pathway genes are associated with increased risks of both childhood leukaemia and solid tumours."],["dc.identifier.doi","10.1038/bjc.2015.75"],["dc.identifier.isi","000352989900012"],["dc.identifier.pmid","25742478"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37381"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1532-1827"],["dc.relation.issn","0007-0920"],["dc.title","Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","651"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","656"],["dc.bibliographiccitation.volume","44"],["dc.contributor.author","Zenker, Martin"],["dc.contributor.author","Horn, Denise"],["dc.contributor.author","Wieczorek, Dagmar"],["dc.contributor.author","Allanson, Judith E."],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","van der Burgt, Ineke"],["dc.contributor.author","Doerr, Helmuth-Guenther"],["dc.contributor.author","Gaspar, Harald"],["dc.contributor.author","Hofbeck, Michael"],["dc.contributor.author","Gillessen-Kaesbach, Gabriele"],["dc.contributor.author","Koch, Andreas"],["dc.contributor.author","Meinecke, Peter"],["dc.contributor.author","Mundlos, Stefan"],["dc.contributor.author","Nowka, Anja"],["dc.contributor.author","Rauch, Anita"],["dc.contributor.author","Reif, Silke"],["dc.contributor.author","von Schnakenburg, Christian"],["dc.contributor.author","Seidel, Heide"],["dc.contributor.author","Wehner, Lars-Erik"],["dc.contributor.author","Zweier, Christiane"],["dc.contributor.author","Bauhuber, Susanne"],["dc.contributor.author","Matejas, Verena"],["dc.contributor.author","Kratz, Christian P."],["dc.contributor.author","Thomas, Christoph"],["dc.contributor.author","Kutsche, Kerstin"],["dc.date.accessioned","2018-11-07T10:58:11Z"],["dc.date.available","2018-11-07T10:58:11Z"],["dc.date.issued","2007"],["dc.description.abstract","Background: Heterozygous gain- of- function mutations in various genes encoding proteins of the Ras- MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome ( NS) and cardio- facio- cutaneous syndrome ( CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS. Methods and results: We investigated SOS1 in a large cohort of patients with disorders of the NS - CFCS spectrum, who had previously tested negative for mutations in PTPN11, KRAS, BRAF, MEK1 and MEK2. Missense mutations of SOS1 were discovered in 28% of patients with NS. In contrast, none of the patients classified as having CFCS was found to carry a pathogenic sequence change in this gene. Conclusion: We have confirmed SOS1 as the second major gene for NS. Patients carrying mutations in this gene have a distinctive phenotype with frequent ectodermal anomalies such as keratosis pilaris and curly hair. However, the clinical picture associated with SOS1 mutations is different from that of CFCS. These findings corroborate that, despite being caused by gainoffunction mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically."],["dc.identifier.doi","10.1136/jmg.2007.051276"],["dc.identifier.isi","000249889300009"],["dc.identifier.pmid","17586837"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/50423"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","B M J Publishing Group"],["dc.relation.issn","0022-2593"],["dc.title","SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","268"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","272"],["dc.bibliographiccitation.volume","73"],["dc.contributor.author","Pantakani, Dasaradha Venkata Krishna"],["dc.contributor.author","Zechner, Ulrich"],["dc.contributor.author","Arygriou, L."],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Sauter, Simone M."],["dc.contributor.author","Mannan, Ashraf U."],["dc.date.accessioned","2018-11-07T11:17:25Z"],["dc.date.available","2018-11-07T11:17:25Z"],["dc.date.issued","2008"],["dc.description.abstract","The SPG4 gene is frequently mutated in autosomal dominant form of hereditary spastic paraplegia (HSP). We report that the compound heterozygous sequence variants S44L, a known polymorphism, and c.1687G > A, a novel mutation in SPG4 cause a severe form of HSP in a patient. The family members carrying solely c.1687G > A mutation are asymptomatic for HSP. The reverse transcriptase-polymerase chain reaction (RT-PCR) analysis revealed that the c.1687G > A mutation is a splice site mutation and causes skipping of the exon 15 of spastin. Furthermore, quantification of RT-PCR products by sequencing and quantification of allele-specific expression by pyrosequencing assay revealed that c.1687G > A is a leaky or hypomorphic splice site mutation. At the protein level, c.1687G > A mutation in SPG4 leads to E563K substitution. In ex vivo study, about 10% of cells expressing E563K mutant spastin showed filamentous expression pattern, suggesting a hypomorphic effect at the protein level. Collectively, our results suggest that S44L in association with c.1687G > A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest HSP."],["dc.identifier.doi","10.1111/j.1399-0004.2007.00953.x"],["dc.identifier.isi","000252929000012"],["dc.identifier.pmid","18190593"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/54802"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Publishing"],["dc.relation.issn","0009-9163"],["dc.title","Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","23"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Monatsschrift Kinderheilkunde"],["dc.bibliographiccitation.lastpage","+"],["dc.bibliographiccitation.volume","155"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Steckel, M."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Wehner, L.-E."],["dc.date.accessioned","2018-11-07T11:07:05Z"],["dc.date.available","2018-11-07T11:07:05Z"],["dc.date.issued","2007"],["dc.description.abstract","CHARGE syndrome is an autosomal dominant syndrome with a high clinical variability. The disorder consists of coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness, often in combination with hypoplasia of the semicircular canal. CHARGE syndrome is common, with an estimated incidence of 1/10,000-15,000 new-borns. The underlying cause are mutations in the CHD7 gene. The CHD7 protein belongs to a group of conserved proteins that are thought to play an important role in chromatin organization and regulation of gene expression. The known mutations are spread all over the whole gene; therefore, mutational analyses of all coding sequences and exon/intron boundaries of the gene are necessary for molecular diagnostics, which would be helpful in situations of diagnostic uncertainty."],["dc.identifier.doi","10.1007/s00112-006-1397-1"],["dc.identifier.isi","000244189100004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52472"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0026-9298"],["dc.title","CHARGE - from an association to the syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","4396"],["dc.bibliographiccitation.issue","16"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","4405"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Schulz, Yvonne"],["dc.contributor.author","Freese, Luisa"],["dc.contributor.author","Maenz, Johanna"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Voelter, Christiane"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Boegershausen, Nina"],["dc.contributor.author","Becker, Jutta"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2017-09-07T11:45:38Z"],["dc.date.available","2017-09-07T11:45:38Z"],["dc.date.issued","2014"],["dc.description.abstract","Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment. While sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic mutation, sequence analysis of the KMT2D gene identified the heterozygous de novo nonsense mutation c.5263C > T (p.Gln1755 ). Thus, our patient was diagnosed with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery, thus pointing out a mechanistic connection, and presenting a probable explanation for the phenotypic overlap between Kabuki and CHARGE syndromes."],["dc.identifier.doi","10.1093/hmg/ddu156"],["dc.identifier.gro","3142072"],["dc.identifier.isi","000340070100016"],["dc.identifier.pmid","24705355"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/4234"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Oxford Univ Press"],["dc.relation.eissn","1460-2083"],["dc.relation.issn","0964-6906"],["dc.title","CHARGE and Kabuki syndromes: a phenotypic and molecular link"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","473"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","479"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Pieper, Lasse"],["dc.contributor.author","Haeberle, Johannes"],["dc.contributor.author","Grzmil, Pawel"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Steckel, M."],["dc.contributor.author","Lenz, Ulrike"],["dc.contributor.author","Michelmann, Hans Wilhelm"],["dc.date.accessioned","2018-11-07T08:30:12Z"],["dc.date.available","2018-11-07T08:30:12Z"],["dc.date.issued","2009"],["dc.description.abstract","Pauli S, Pieper L, HAberle J, Grzmil P, Burfeind P, Steckel M, Lenz U, Michelmann HW. Proven germline mosaicism in a father of two children with CHARGE syndrome.Clin Genet 2009: 75: 473-479. (C) Blackwell Munksgaard, 2009 CHARGE syndrome is an autosomal dominant malformation syndrome caused by mutations in the CHD7 gene. The majority of cases are sporadic and only few familial cases have been reported. In these families, mosaicism in one parent, as well as parent- to-child transmission of a CHD7 mutation, has been described. In some further cases, germline mosaicism has been suggested. Here, we report the first case in which germline mosaicism could be demonstrated in a father of two affected children with CHARGE syndrome. The truncating mutation c.7302dupA in exon 34 of the CHD7 gene was found in both affected children but was not detected in parental lymphocytes. However, in DNA extracted from the father's spermatozoa, the c.7302dupA mutation could be identified. Furthermore, mutation analysis of DNA isolated from 59 single spermatozoa revealed that the c.7302dupA mutation occurs in 16 spermatozoa, confirming germline mosaicism in the father of the affected children. This result has a high impact for genetic counselling of the family and for their recurrence risk in further pregnancies."],["dc.identifier.doi","10.1111/j.1399-0004.2009.01151.x"],["dc.identifier.isi","000265708200010"],["dc.identifier.pmid","19475719"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/16833"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell Publishing, Inc"],["dc.relation.issn","0009-9163"],["dc.title","Proven germline mosaicism in a father of two children with CHARGE syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","652"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","658"],["dc.bibliographiccitation.volume","158A"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Steinemann, Doris"],["dc.contributor.author","Dittmann, Kai"],["dc.contributor.author","Wienands, Juergen"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Moeschner, Marita"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Manukjan, Georgi"],["dc.contributor.author","Goehring, Gudrun"],["dc.contributor.author","Escherich, Gabriele"],["dc.date.accessioned","2018-11-07T09:12:38Z"],["dc.date.available","2018-11-07T09:12:38Z"],["dc.date.issued","2012"],["dc.description.abstract","Noonan syndrome (NS) is a common autosomal dominant condition characterized by short stature, congenital heart defects, and dysmorphic facial features caused in approximately 50% of cases by missense mutations in the PTPN11 gene. NS patients are predisposed to malignancies including myeloproliferative disorders or leukemias. We report a female NS patient carrying a PTPN11 germline mutation c.417 G?>?C (p.E139D), who developed in her second year of life an acute lymphoblastic leukemia (ALL) and after remission, she developed at 4 years of age a juvenile myelomonocytic leukemia (JMML). Molecular genetic analysis of lymphoblastic blasts at the time of the ALL diagnosis revealed the germline mutation in a heterozygous state, while in the myelomonocytic blasts occurring with JMML diagnosis, the mutation p.E139D was found in a homozygous state due to a uniparental disomy (UPD). These findings lead to the suggestion that the pathogenesis of ALL and JMML in our patient is due to different mechanisms including somatically acquired secondary chromosomal abnormalities. (c) 2012 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.34439"],["dc.identifier.isi","000300498500028"],["dc.identifier.pmid","22315187"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26985"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1552-4825"],["dc.title","Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","30"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Molecular Syndromology"],["dc.bibliographiccitation.lastpage","37"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Neuhofer, Christiane M."],["dc.contributor.author","Funke, Rudolf"],["dc.contributor.author","Wilken, Bernd"],["dc.contributor.author","Knaus, Alexej"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Li, Yun"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2020-12-10T18:37:53Z"],["dc.date.available","2020-12-10T18:37:53Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1159/000505797"],["dc.identifier.eissn","1661-8777"],["dc.identifier.issn","1661-8769"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77127"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1343"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","1352"],["dc.bibliographiccitation.volume","27"],["dc.contributor.author","Ufartes, Roser"],["dc.contributor.author","Schwenty-Lara, Janina"],["dc.contributor.author","Freese, Luisa"],["dc.contributor.author","Neuhofer, Christiane"],["dc.contributor.author","Möller, Janika"],["dc.contributor.author","Wehner, Peter"],["dc.contributor.author","van Ravenswaaij-Arts, Conny M A"],["dc.contributor.author","Wong, Monica T Y"],["dc.contributor.author","Schanze, Ina"],["dc.contributor.author","Tzschach, Andreas"],["dc.contributor.author","Bartsch, Oliver"],["dc.contributor.author","Borchers, Annette"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2020-12-10T18:19:15Z"],["dc.date.available","2020-12-10T18:19:15Z"],["dc.date.issued","2018"],["dc.identifier.doi","10.1093/hmg/ddy045"],["dc.identifier.eissn","1460-2083"],["dc.identifier.issn","0964-6906"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/75180"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Sema3a plays a role in the pathogenesis of CHARGE syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]