Zoll, Barbara

[["dc.bibliographiccitation.artnumber","10"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","2"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Bruemmer, Verena"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Boehm, Detlef"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Wilichowski, Ekkehard"],["dc.contributor.author","Argyriou, Loukas"],["dc.contributor.author","Bartels, Iris"],["dc.date.accessioned","2018-11-07T08:35:08Z"],["dc.date.available","2018-11-07T08:35:08Z"],["dc.date.issued","2009"],["dc.description.abstract","Background: Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitative PCR (qPCR) protocol established by Boehm et al. (2004) in the clinical routine of subtelomeric testing. Results: 296 patients with MR and a normal karyotype (500-550 bands) were screened for subtelomeric imbalances by using qPCR combined with SYBR green detection. In total, 17 patients (5.8%) with 20 subtelomeric imbalances were identified. Six of the aberrations (2%) were classified as causative for the symptoms, because they occurred either de novo in the patients (5 cases) or the aberration were be detected in the patient and an equally affected parent (1 case). The extent of the deletions ranged from 1.8 to approximately 10 Mb, duplications were 1.8 to approximately 5 Mb in size. In 6 patients, the copy number variations (CNVs) were rated as benign polymorphisms, and the clinical relevance of these CNVs remains unclear in 5 patients (1.7%). Therefore, the overall frequency of clinically relevant imbalances ranges between 2% and 3.7% in our cohort."],["dc.identifier.doi","10.1186/1755-8166-2-10"],["dc.identifier.isi","000208460900009"],["dc.identifier.pmid","19284615"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/5765"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17987"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 2.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.0"],["dc.title","Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2832"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","2837"],["dc.bibliographiccitation.volume","149A"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Backes, Heiko"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Kriebel, Thomas"],["dc.contributor.author","Stellmer, Franziska"],["dc.contributor.author","Zoll, Barbara"],["dc.date.accessioned","2018-11-07T11:21:13Z"],["dc.date.available","2018-11-07T11:21:13Z"],["dc.date.issued","2009"],["dc.description.abstract","The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition. (C) 2009 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.33111"],["dc.identifier.isi","000272535000032"],["dc.identifier.pmid","19938094"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55722"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Overlap of Moebius and Oromandibular Limb Hypogenesis Syndrome With Gastroschisis and Pulmonary Hypoplasia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","229"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","235"],["dc.bibliographiccitation.volume","158A"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Wickert, Julia"],["dc.contributor.author","Schroeder, Julia"],["dc.contributor.author","Bartels, Iris"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Salinas-Riester, Gabriela"],["dc.contributor.author","Weise, Dagmar"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.contributor.author","Burfeind, Peter"],["dc.date.accessioned","2018-11-07T09:15:51Z"],["dc.date.available","2018-11-07T09:15:51Z"],["dc.date.issued","2012"],["dc.description.abstract","Interstitial deletions of the proximal chromosome 16q are rare. To date, only six cases with molecularly well-characterized microdeletions within this chromosomal region have been described. We report on a patient with severe psychomotor delay, dysmorphic features, microcephaly and hypoplasia of the corpus callosum, epilepsy, a heart defect, and pronounced muscular hypotonia. Array comparative genomic hybridization (aCGH) revealed that the patient's features were likely caused by a 4.7 Mb de novo deletion on chromosome 16q12.1q12.2, which was confirmed by quantitative real-time PCR (qPCR). The psychomotor delay and craniofacial dysmorphism are more severe in our patient than previously reported patients. Unmasked recessive mutations in the ZNF423 and FTO genes on the remaining allele were excluded as the putative cause for this severe phenotype. In conclusion, the phenotypic spectrum of microdeletions in 16q12 is broad and comprises variable degrees of psychomotor delay and intellectual disability, craniofacial anomalies, and additional features, including heart defects, brain malformations, and limb anomalies. (C) 2011 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.34387"],["dc.identifier.isi","000299381800033"],["dc.identifier.pmid","22140031"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27800"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1552-4825"],["dc.title","A 16q12 Microdeletion in a Boy With Severe Psychomotor Delay, Craniofacial Dysmorphism, Brain and Limb Malformations, and a Heart Defect"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","53"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","65"],["dc.bibliographiccitation.volume","83"],["dc.contributor.author","Shoukier, M."],["dc.contributor.author","Klein, Nadja"],["dc.contributor.author","Auber, B."],["dc.contributor.author","Wickert, J."],["dc.contributor.author","Schroeder, J."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, P."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Alsat, E. A."],["dc.contributor.author","Lingen, M."],["dc.contributor.author","Grzmil, P."],["dc.contributor.author","Schulze, S."],["dc.contributor.author","Keyser, J."],["dc.contributor.author","Weise, Dagmar"],["dc.contributor.author","Borchers, M."],["dc.contributor.author","Hobbiebrunken, E."],["dc.contributor.author","Roebl, M."],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.date.accessioned","2017-09-07T11:48:19Z"],["dc.date.available","2017-09-07T11:48:19Z"],["dc.date.issued","2013"],["dc.description.abstract","Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID. The phenotypic features of patients with clinically significant CNV were compared with those without pathogenic CNVs. Array CGH detected pathogenic CNVs in 13.2% of the patients. Congenital anomalies, especially heart defects, as well as primary microcephaly, short stature and failure to thrive were clearly more frequent in children with pathogenic CNVs compared with children with normal array CGH results. Thus, we assume that in patients with unexplained DD/ID, array CGH will more probably detect a significant CNV if any of these features is part of the patient's phenotype."],["dc.identifier.doi","10.1111/j.1399-0004.2012.01850.x"],["dc.identifier.gro","3142418"],["dc.identifier.isi","000312544000011"],["dc.identifier.pmid","22283495"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8063"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0009-9163"],["dc.title","Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","74"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Schwaibold, Eva Maria Christina"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Winter, Lorenz"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2018-11-07T09:33:25Z"],["dc.date.available","2018-11-07T09:33:25Z"],["dc.date.issued","2014"],["dc.description.abstract","Background: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34. Results: We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1. Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome."],["dc.identifier.doi","10.1186/s13039-014-0074-7"],["dc.identifier.isi","000344120100001"],["dc.identifier.pmid","25349628"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31961"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Intragenic duplication of EHMT1 gene results in Kleefstra syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["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","98"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Genetics in Medicine"],["dc.bibliographiccitation.lastpage","108"],["dc.bibliographiccitation.volume","20"],["dc.contributor.author","Mitter, Diana"],["dc.contributor.author","Pringsheim, Milka"],["dc.contributor.author","Kaulisch, Marc"],["dc.contributor.author","Plümacher, Kim Sarah"],["dc.contributor.author","Schröder, Simone"],["dc.contributor.author","Warthemann, Rita"],["dc.contributor.author","Abou Jamra, Rami"],["dc.contributor.author","Baethmann, Martina"],["dc.contributor.author","Bast, Thomas"],["dc.contributor.author","Büttel, Hans-Martin"],["dc.contributor.author","Cohen, Julie S"],["dc.contributor.author","Conover, Elizabeth"],["dc.contributor.author","Courage, Carolina"],["dc.contributor.author","Eger, Angelika"],["dc.contributor.author","Fatemi, Ali"],["dc.contributor.author","Grebe, Theresa A"],["dc.contributor.author","Hauser, Natalie S"],["dc.contributor.author","Heinritz, Wolfram"],["dc.contributor.author","Helbig, Katherine L"],["dc.contributor.author","Heruth, Marion"],["dc.contributor.author","Huhle, Dagmar"],["dc.contributor.author","Höft, Karen"],["dc.contributor.author","Karch, Stephanie"],["dc.contributor.author","Kluger, Gerhard"],["dc.contributor.author","Korenke, G Christoph"],["dc.contributor.author","Lemke, Johannes R"],["dc.contributor.author","Lutz, Richard E"],["dc.contributor.author","Patzer, Steffi"],["dc.contributor.author","Prehl, Isabelle"],["dc.contributor.author","Hoertnagel, Konstanze"],["dc.contributor.author","Ramsey, Keri"],["dc.contributor.author","Rating, Tina"],["dc.contributor.author","Rieß, Angelika"],["dc.contributor.author","Rohena, Luis"],["dc.contributor.author","Schimmel, Mareike"],["dc.contributor.author","Westman, Rachel"],["dc.contributor.author","Zech, Frank-Martin"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Malzahn, Dörthe"],["dc.contributor.author","Zirn, Birgit"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2020-12-10T18:09:27Z"],["dc.date.available","2020-12-10T18:09:27Z"],["dc.date.issued","2017"],["dc.identifier.doi","10.1038/gim.2017.75"],["dc.identifier.eissn","1530-0366"],["dc.identifier.issn","1098-3600"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/73659"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","429"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","433"],["dc.bibliographiccitation.volume","158A"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Schröder, Julia"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Freiberg, Clemens"],["dc.contributor.author","Klinge, Lars"],["dc.contributor.author","Kriebel, Thomas"],["dc.contributor.author","Lingen, Michael"],["dc.contributor.author","Mohr, Alexander"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2021-06-01T10:49:11Z"],["dc.date.available","2021-06-01T10:49:11Z"],["dc.date.issued","2012"],["dc.identifier.doi","10.1002/ajmg.a.34427"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/86194"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation.issn","1552-4825"],["dc.title","A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","176"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Molecular genetics & genomic medicine"],["dc.bibliographiccitation.lastpage","185"],["dc.bibliographiccitation.volume","2"],["dc.contributor.author","Spiegler, Stefanie"],["dc.contributor.author","Najm, Juliane"],["dc.contributor.author","Liu, Jian"],["dc.contributor.author","Gkalympoudis, Stephanie"],["dc.contributor.author","Schröder, Winnie"],["dc.contributor.author","Borck, Guntram"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Elbracht, Miriam"],["dc.contributor.author","Fauth, Christine"],["dc.contributor.author","Ferbert, Andreas"],["dc.contributor.author","Freudenberg, Leonie"],["dc.contributor.author","Grasshoff, Ute"],["dc.contributor.author","Hellenbroich, Yorck"],["dc.contributor.author","Henn, Wolfram"],["dc.contributor.author","Hoffjan, Sabine"],["dc.contributor.author","Hüning, Irina"],["dc.contributor.author","Korenke, G. Christoph"],["dc.contributor.author","Kroisel, Peter M."],["dc.contributor.author","Kunstmann, Erdmute"],["dc.contributor.author","Mair, Martina"],["dc.contributor.author","Munk-Schulenburg, Susanne"],["dc.contributor.author","Nikoubashman, Omid"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Rudnik-Schöneborn, Sabine"],["dc.contributor.author","Sudholt, Irene"],["dc.contributor.author","Sure, Ulrich"],["dc.contributor.author","Tinschert, Sigrid"],["dc.contributor.author","Wiednig, Michaela"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Ginsberg, Mark H."],["dc.contributor.author","Felbor, Ute"],["dc.date.accessioned","2019-07-09T11:41:11Z"],["dc.date.available","2019-07-09T11:41:11Z"],["dc.date.issued","2014-03-01"],["dc.description.abstract","Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecutive series of 105 probands were 87% for familial and 57% for isolated cases. Thirty-one novel mutations were identified with a slight shift towards proportionally more CCM3 mutations carriers than previously published (CCM1: 60%, CCM2: 18%, CCM3: 22%). In-frame deletions and exonic missense variants requiring functional analyses to establish their pathogenicity were rare: An in-frame deletion within the C-terminal FERM domain of CCM1 resulted in decreased protein expression and impaired binding to the transmembrane protein heart of glass (HEG1). Notably, 20% of index cases carrying a CCM mutation were below age 10 and 33% below age 18 when referred for genetic testing. Since fulminant disease courses during the first years of life were observed in CCM1 and CCM3 mutation carriers, predictive testing of minor siblings became an issue."],["dc.identifier.doi","10.1002/mgg3.60"],["dc.identifier.fs","603997"],["dc.identifier.pmid","24689081"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11777"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/58366"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation","info:eu-repo/grantAgreement/EC/FP7/264143/EU//ENVISION"],["dc.relation.euproject","ENVISION"],["dc.relation.issn","2324-9269"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors."],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]