On Being a Medical Geneticist
Stickler Syndrome: Clinical Characteristics and Diagnostic Criteria
Optic Atrophy and Sensorineural Hearing Loss in a Family Caused by an R445h OPA1 Mutation
Adults With VATER Association: Long-Term Prognosis
FISH-Mapping of Telomeric 14q32 Deletions: Search for the Cause of Seizures
Chromosome 11-q24 Region in Tourette Syndrome: Association and Linkage Disequilibrium Study in the French Canadian Population
Ring Chromosome 9 [r(9)(p24q34)]: A Report of Two Cases
A Syndrome Characterized by Contractures and Pterygia of Upper Body Associated with Umbilical Hernia, Short Stature, and Distinctive Face in an Arabic Family
XX Sex Reversal, Palmoplantar Keratoderma, and Predisposition to Squamous Cell Carcinoma: Genetic Analysis in One Family
Precision and Error of Three-Dimensional Phenotypic Measures Acquired From 3dMD Photogrammetric Images
Facial and Physical Features of Aicardi Syndrome: Infants to Teenagers
Detection of Low Level Sex Chromosome Mosaicism in Ullrich–Turner Syndrome Patients
Genome-Wide SNP Arrays as a Diagnostic Tool: Clinical Description, Genetic Mapping, and Molecular Characterization of Salla Disease in an Old Order Mennonite Population
Autosomal Recessive Oliver–Mcfarlane Syndrome: Retinitis Pigmentosa, Short Stature (GH deficiency), Trichomegaly, and Hair Anomalies or CPD syndrome (Chorioretinopathy-Pituitary Dysfunction)
Clinical and Molecular Studies on Two Further Families With Simpson-Golabi-Behmel Syndrome
Novel Phenotype of Craniosynostosis and Ocular Anterior Chamber Dysgenesis With a Fibroblast Growth Factor Receptor 2 Mutation
Ehlers–Danlos Syndrome Type VIB With Characteristic Facies, Decreased Curvatures of the Spinal Column, and Joint Contractures in Two Unrelated Girls
Intrachromosomal Insertion Mimicking a Pericentric Inversion: Molecular Cytogenetic Characterization of a Three Break Rearrangement of Chromosome 20
A Male With Two idic(Y)(q12) Chromosomes: A Distinct Phenotype Resembling the XXXY/XXXXY Syndrome
Klippel-Feil Anomaly in a boy and Dubowitz Syndrome With Vertebral Fusion in his Brother: A new Variant of Dubowitz Syndrome?
X-Linked Adrenoleukodystrophy With Partial Deletion of ALD Due to Fusion With the Neighbor Gene, PLXNB3
Book Review
Partial Trisomy 4q and Preaxial Limb Defects