Clinical Features of 78 Adults With 22q11 Deletion Syndrome
Delineation of the Clinical Phenotype Associated With OPHN1 Mutations Based on the Clinical and Neuropsychological Evaluation of Three Families
Sensorineural Hearing Loss in Children and Adults With Williams Syndrome
A 72-Year-Old Danish Puzzle Resolved—Comparative Analysis of Phenotypes in Families With Different-Sized HOXD13 Polyalanine Expansions
Homozygosity for a Gross Partial Gene Deletion of the C-Terminal End of ATP7B in a Wilson Patient With Hepatic and no Neurological Manifestations
Founder SVA Retrotransposal Insertion in Fukuyama-Type Congenital Muscular Dystrophy and Its Origin in Japanese and Northeast Asian Populations
Interstitial Deletion of Chromosome 12q: Genotype–Phenotype Correlation of Two Patients Utilizing Array Comparative Genomic Hybridization
Meiotic Exchange Event Within the Stalk Region of an Inverted Chromosome 22 Results in a Recombinant Chromosome With Duplication of the Distal Long Arm
A Girl With Partial Trisomy 12q24.31 Inherited From her Father and a Possible Novel Syndrome Transmitted From her Mother
New Approach for the Refinement of the Location of the X-Chromosome Breakpoint in a Previously Described Female Patient with Choroideremia Carrying a X;4 Translocation
Prenatal Magnetic Resonance Imaging in Gomez-Lopez-Hernandez Syndrome and Review of the Literature
Familial Vertebral Segmentation Defects, Sprengel Anomaly, and Omovertebral Bone With Variable Expressivity
Du Pan Syndrome Phenotype Caused by Heterozygous Pathogenic Mutations in CDMP1 Gene
Hypertrichosis in Patients with SURF1 Mutations
Medial Temporal Lobe Dysgenesis in Hypochondroplasia
A New Locus for Nonsyndromic Deafness DFNB51 Maps to Chromosome 11p13-p12
Transitory Hypogammaglobulinemia of Infancy in FG Syndrome
A Case of C3 Deficiency With a Novel Homozygous Two-Base Deletion in the C3 Gene
XK-Aprosencephaly and Related Entities
Book Review
Correct Usage of “Loss of Imprinting”
Response to Fukuzawa et al. Correspondence “Correct Usage of Loss Imprinting”
Analysis of the Planar Cell Polarity Gene Vangl2 and its Co-Expressed Paralog Vangl1 in Neural Tube Defect Patients (Am J Med Genet 136A: 90–92, 2005)