Lack of association between Rh status, Rh immune globulin in pregnancy and autism
Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: A clinical report series
CDG-Id in two siblings with partially different phenotypes
Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome
Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features
Pelizaeus-Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations
Partial tandem duplication of GRIA3 in a male with mental retardation
Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment
A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome
Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver–Russell syndrome
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia
Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
Upper gastrointestinal malformations in Coffin-Siris syndrome
A novel PTEN mutation in Cowden syndrome is associated with a mixed degenerative-erosive arthritic process: Potential molecular pathogenic mechanisms
Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome