Publication & Citation Trends
Publications
0 total
Short rib syndrome Beemer–Langer type, a short history
Cited by 1
Semantic Scholar
UvA-DARE ( Digital Academic Repository ) Novel HOXA 13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
Cited by 90
Semantic Scholar
Report of 12 Cases
Cited by 21
Semantic Scholar
Explaining the variable penetrance of CNVs: Parental intelligence modulates expression of intellectual impairment caused by the 22q11.2 deletion
Cited by 32
Semantic Scholar
Behavioral phenotype in children with 22q11DS: agreement between parents and teachers.
Cited by 7
Semantic Scholar
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. OA
Cited by 14
Semantic Scholar
Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: a prospective 6-year follow-up study.
Cited by 30
Semantic Scholar
Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients OA
Cited by 22
Semantic Scholar
Cognitive development in children with 22q11.2 deletion syndrome. OA
Cited by 102
Semantic Scholar
Research Topics
Metabolism and Genetic Disorders
(16)
Biochemical and Molecular Research
(14)
Genomic variations and chromosomal abnormalities
(13)
Prenatal Screening and Diagnostics
(8)
BRCA gene mutations in cancer
(7)
Affiliations
Boston Children's Hospital
Radboud University Nijmegen
Duke University
Utrecht University
Rambam Health Care Campus