subject area of
- A Novel Type 2A von Willebrand Factor Mutation (V1499E) Associated With Variable Clinical Expression Academic Article
- A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism Academic Article
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Academic Article
- Does family history predict the age at onset of new breast cancers inBRCA1andBRCA2mutation-positive families? Academic Article
- Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family Academic Article
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Heterozygous
NOTCH1 deletion associated with variable congenital heart defects Academic Article - Integrins Regulate Responsiveness to Slit Repellent Signals Academic Article
- Microbial signals drive pre-leukaemic myeloproliferation in a Tet2-deficient host Academic Article
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Academic Article
- Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution Academic Article
- Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression Academic Article
- Prevalence of Melanocortin-4 Receptor Deficiency in Europeans and Their Age-Dependent Penetrance in Multigenerational Pedigrees Academic Article
- Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Academic Article
- Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes Academic Article