Mechanisms of Imprinting of the Prader-Willi/Angelman Region
Disruption of the TCF4 Gene in a Girl With Mental Retardation but Without the Classical Pitt-Hopkins Syndrome
Co-Occurring Conditions Associated With FMR1 Gene Variations
Fear of Health Insurance Loss Among Individuals at Risk for Huntington Disease
Mental Health and Quality of Life After Genetic Testing for Huntington Disease
Monozygotic Twins Discordant for Trisomy 21 and Maternal 21q Inheritance
Subtelomeric 6p Deletion
Clinical Phenotype Correlates to Glycoprotein Phenotype in a Sib Pair With CDG-Ia
Array-CGH in a Series of 30 Patients With Mental Retardation, Dysmorphic Features, and Congenital Malformations Detected An Interstitial 1p22.2-p31.1 Deletion in a Patient With Features Overlapping the Goldenhar Syndrome
Compound Heterozygosity for GDF5 in Du Pan Type Chondrodysplasia
Monozygotic Twins Discordant for Proteus Syndrome
Constitutional H19 Hypermethylation in a Patient With Isolated Cardiac Tumor
Radiological Evolution in IMAGe Association
Schilbach-Rott/Blepharofacioskeletal Syndrome in a Brazilian Patient
Marshall-Smith Syndrome and Septo-Optic Dysplasia
Pierre Robin Sequence Associated With First Trimester Fetal Tamoxifen Exposure
The CASK Gene Harbored in a Deletion Detected by Array-CGH as a Potential Candidate for a Gene Causative of X-linked Dominant Mental Retardation
Deletion of 1 Amino Acid in Indian Hedgehog Leads to BrachydactylyA1
A Case of Lelis Syndrome With Hystrix-Like Ichthyosis
An Intronic Mutation in DKC1 in an Infant With HøYeraal-Hreidarsson Syndrome
SOX10 Mutation in Waardenburg Syndrome Type II
Matrix Extracellular Phosphoglycoprotein (MEPE) Correlates With Serum Phosphorus Prior to and During Octreotide Treatment and Following Excisional Surgery in Hypophosphatemic Linear Sebaceous Nevus Syndrome
Genital Anomalies in a Patient With Treacher Collins Syndrome
Sacral Appendage in a Child With an FGFR2 Mutation