about
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndromeCHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeMutation update on the CHD7 gene involved in CHARGE syndromeExon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndromeStudy of smell and reproductive organs in a mouse model for CHARGE syndrome.Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based studyPrevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in EuropeDeath in CHARGE syndrome after the neonatal period.CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins.Folic acid supplementation influences the distribution of neural tube defect subtypes: A registry-based study.The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study.A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.Prenatal diagnosis of urinary tract anomalies, a cohort study in the Northern Netherlands.Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.The cardiac phenotype in patients with a CHD7 mutation.Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.Fraser Syndrome: Epidemiological Study in a European PopulationImaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control StudyEpidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT studyBeckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in EuropeTwo related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin geneThe results of CHD7 analysis in clinically well-characterized patients with Kallmann syndromeMaternal risk factors for the VACTERL association: A EUROCAT case-control studyEpidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jorieke Bergman
@ast
Jorieke Bergman
@en
Jorieke Bergman
@es
Jorieke Bergman
@nl
type
label
Jorieke Bergman
@ast
Jorieke Bergman
@en
Jorieke Bergman
@es
Jorieke Bergman
@nl
prefLabel
Jorieke Bergman
@ast
Jorieke Bergman
@en
Jorieke Bergman
@es
Jorieke Bergman
@nl
P106
P31
P496
0000-0002-3929-3619