Marshall–Smith Syndrome:
Arthrogryposis Multiplex With Deafness, Inguinal Hernias, and Early Death:
Analysis of NF1 Transcriptional Regulatory Elements
Mutation Analysis of the HDAC 1 , 2 , 8 and CDKL5 Genes in Rett Syndrome Patients Without Mutations in MECP2
Molecular and Phenotypic Characterization of Ring Chromosome 22
Male-To-Male Transmission in Laurin–Sandrow Syndrome and Exclusion of RARB and RARG
Cost Comparison of Genetic and Clinical Screening in Families With Hereditary Hemorrhagic Telangiectasia
Geneticists' Views on Science Policy Formation and Public Outreach
A Mitochondrial tRNA Aspartate Mutation Causing Isolated Mitochondrial Myopathy
Familial Recurrence of Heart Defects in Subjects With Congenitally Corrected Transposition of the Great Arteries
Microphthalmia With Linear Skin Defects (MLS) Syndrome:
Gracile Bones, Periostal Appositions, Hypomineralization of the Cranial Vault, and Mental Retardation in Brothers:
Microcephaly Is Not Mandatory for the Diagnosis of Mosaic Variegated Aneuploidy Syndrome
A Patient With Mosaic Partial Trisomy 18 Resulting From Dicentric Chromosome Breakage
Ring Chromosome 4 in a Patient With Early Onset Type 2 Diabetes, Deafness, and Developmental Delay
Characterization of a Familial Balanced rec(13) in a Child With Mild MR and His Half-Sibling With Two Structurally Rearranged Chromosomes 13
Revertant Mosaicism and Retrotransposons:
Patient With a Non-Mosaic Isodicentric Yp and Mild Developmental Delay
The GJB2 Mutation R75Q Can Cause Nonsyndromic Hearing Loss DFNA3 or Hereditary Palmoplantar Keratoderma With Deafness
The Outcome of Diagnostic Studies on the Etiology of Mental Retardation:
Congenital Palmar Polyonychia With Postaxial Limb Defects May be the Same as the Ulnar–Mammary Syndrome
Reply to Letter to the Editor by Crow: