A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters
Weight for age charts for children with achondroplasia
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2–Xq28
The origin of trisomy 13
The origin of trisomy 22: Evidence for acrocentric chromosome-specific patterns of nondisjunction
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome
Social, emotional, and behavioral functioning of children with NF1
Risk factors for isolated biliary atresia, National Birth Defects Prevention Study, 1997–2002
NAT2 variation and idiopathic talipes equinovarus (clubfoot)
Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, PAX1 and MEOX1
Fetal anticonvulsant syndromes and polymorphisms in MTHFR , MTR , and MTRR
WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations
Craniofacioskeletal syndrome: An X-linked dominant disorder with early lethality in males
Dominantly-inherited lop ears
Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype
Fetal trisomy 5 mosaicism: Case report and literature review
Cleft lip with or without cleft palate: Frequency in different ethnic populations from the UCSF craniofacial clinic
Book review
Further refinement of the candidate region for monosomy 9p syndrome