about
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsDermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsRole of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectivesTBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutationNFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyThe oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritanceAnatomical and functional abnormalities on MRI in kabuki syndrome.Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literaturePostzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital DefectsAuthor Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeLysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupNew insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndromeImmunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsDisruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case reportDe novo variants in CNOT3 cause a variable neurodevelopmental disorderEstimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practiceAutosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literatureDermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutationPycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review[Problems posed by genetic diseases, concerning: chromosomal disorders, trisomy 21; genetic diseases, cystic fibrosis, DNA instability disorders: fragile X syndrome][Non-invasive prenatal screening]Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
David Geneviève
@en
David Geneviève
@nl
type
label
David Geneviève
@en
David Geneviève
@nl
prefLabel
David Geneviève
@en
David Geneviève
@nl
P31
P496
0000-0001-6928-6287