A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family
Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003
The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene ( CRYAA )
In search of the psychosis gene in people with Prader-Willi syndrome
Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome
The Italian National Survey for Prader–Willi syndrome: An epidemiologic study
Developmental profiles in young children with Prader–Labhart–Willi syndrome: Effects of weight and therapy with growth hormone or coenzyme Q10
Review of 64 cases of death in children with Prader–Willi syndrome (PWS)
A girl with fragile X premutation from sperm donation
Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion
Familial interstitial deletion of the short arm of chromosome 4 (p15.33–p16.3) characterized by molecular cytogenetic analysis
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome
Interstitial deletion of 13q associated with polymicrogyria
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman
Genetic variation in the HTR1A gene and sudden infant death syndrome
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls
Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1
Clarification of previously reported Costello syndrome patients
Dominantly-inherited lop ears
Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge–Weber and Klippel–Trenaunay syndromes
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function