A New Syndrome of Congenital Generalized Osteosclerosis and Bilateral Polymicrogyria
A Novel Missense Mutation in A C2 Domain of OTOF Results in Autosomal Recessive Auditory Neuropathy
Duplication of Xq26.2–q27.1, Including SOX3 , in A Mother and Daughter With Short Stature and Dyslalia
Non-Skewed X-Inactivation May Cause Mental Retardation in a Female Carrier of X-Linked α-Thalassemia/Mental Retardation Syndrome (ATR-X):
Risks of Human Conotruncal Heart Defects Associated With 32 Single Nucleotide Polymorphisms of Selected Cardiovascular Disease-Related Genes
Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome
No Evidence for Triallelic Inheritance of MKKS/BBS Loci in Amish Mckusick–Kaufman Syndrome
The Natural History of Severe Anemia in Cartilage-Hair Hypoplasia
Brachydactylic Multiple Delta Phalanges Plus Syndrome
Bifurcation of the Femur With Tibial Agenesis and Additional Anomalies
Cryptic Duplication and Deletion of 9q34.3 → qter in a Family With a t(9;22)(q34.3;p11.2)
Recognition of Smith–Lemli–Opitz Syndrome (RSH) in the Fetus:
Prenatal Death in Smith–Lemli–Opitz/RSH Syndrome
Analysis of RPS19 in Patients With Cartilage-Hair Hypoplasia and Severe Anemia:
Chromosome 1q42 Deletion and Agenesis of the Corpus Callosum
A Novel in-Frame Deletion in ARX Is Associated With Lissencephaly With Absent Corpus Callosum and Hypoplastic Genitalia
Demonstration of two Novel LAMB2 Mutations in the Original Pierson Syndrome Family Reported 42 Years Ago
Probable Identity-by-Descent for a Mutation in the Dyggve–Melchior–Clausen/Smith–McCort Dysplasia ( Dymeclin ) Gene Among Patients From Guam, Chile, Argentina, and Spain