A Newly Recognized, Likely Autosomal Recessive Syndrome Comprising Agammaglobulinemia, Microcephaly, Craniosynostosis, Severe Dermatitis, and Other Features
Pervasive Developmental Disorders in Prader–Willi Syndrome:
A Compound Heterozygote Harboring Novel and Recurrent DTDST Mutations With Intermediate Phenotype Between Atelosteogenesis Type II and Diastrophic Dysplasia
A Population-Based Case-Control Study of Isolated Primary Congenital Glaucoma
Array-Based Comparative Genomic Hybridization Facilitates Identification of Breakpoints of a Novel der(1)t(1;18)(p36.3;q23)dn in a Child Presenting With Mental Retardation
Clinical and Molecular Characterization of Individuals With 18p Deletion:
Gastrointestinal Phenotype of ATR-X Syndrome
Pregnancy Outcome of Fetuses With Trisomy 18 Identified by Prenatal Sonography and Chromosomal Analysis in a Perinatal Center
Sensorineural Deafness, Hydrocephalus and Structural Brain Abnormalities in Two Sisters:
Oto-Spondylo-Megaepiphyseal Dysplasia (OSMED):
Familial Thoracic Aortic Aneurysms and Dissections:
De Novo Pure 12q22q24.33 Duplication:
Schizophrenia in an Adult With 6p25 Deletion Syndrome
WAGR(O?) Syndrome and Congenital Ptosis Caused by an Unbalanced t(11;15)(p13;p11.2)dn Demonstrating a 7 Megabase Deletion by FISH
Intrachromosomal Triplication 12p11.22–p12.3 and Gonadal Mosaicism of Partial Tetrasomy 12p
A Missense Mutation in the ZFHX1B Gene Associated With an Atypical Mowat–Wilson Syndrome Phenotype
A Constitutional Telomeric Translocation Showing Meiotic Instability
Metaphyseal Dysplasia of Braun–Tinschert Type:
Chilean Primary Health Workers' Knowledge About Folic Acid Supplementation for the Prevention of Neural Tube Defects
The Neonatal Phenotype of Prader–Willi Syndrome
Camptodactyly, Joint Contractures, Facial, and Skeletal Defects:
Response to the Alvarez Nava and Puerta “Y-Chromosome Microdeletions in 45,X/46,XY Patients”
Desbuquois Syndrome in Three Sisters With Significantly Different Lengths of Survival