Submicroscopic Deletions and Duplications in Individuals With Intellectual Disability Detected by Array-CGH
Cardiovascular Malformations in Fryns Syndrome: Is There A Pathogenic Role for Neural Crest Cells?
Promotor Genotype of the Platelet-Derived Growth Factor Receptor-α Gene Shows Population Stratification But Not Association With Spina Bifida Meningomyelocele
Changes in Hair Morphology of Mucopolysaccharidosis I Patients Treated With Recombinant Human α-l-Iduronidase (Laronidase, Aldurazyme)
Epidemiology of Hemimegalencephaly: A Case Series and Review
Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II) Complicated by Stroke: Clinical Report and Review of Cerebral Vascular Anomalies
A Patient With Monosomy 1p36, Atypical Features and Phenotypic Similarities With Cantu Syndrome
An Xq22.3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS5 ) for FG Syndrome
Costello Syndrome and Hyperinsulinemic Hypoglycemia
Investigation of Patients With Mental Retardation and Dysmorphic Features Using Comparative Genomic Hybridization and Subtelomeric Multiplex Ligation Dependent Probe Amplication
Mos 46,XX,r(18).ish r(18)(18ptel−,18qtel−)/46,XX.ish del(18)(18ptel−): An Example for Successive Ring Chromosome Formation
CRELD1 and GATA4 Gene Analysis in Patients With Nonsyndromic Atrioventricular Canal Defects
Systemic Lupus Erythematosus and Other Autoimmune Disorders in Children With Noonan Syndrome
Sequence Variations in AGTR2 Are Unlikely to Be Associated With X-Linked Mental Retardation