Linking Antley–Bixler Syndrome and Congenital Adrenal Hyperplasia
Autistic Behavior in Children With Fragile X Syndrome
Autism Spectrum Disorder in Fragile X Syndrome: Differential Contribution of Adaptive Socialization and Social Withdrawal
Clinical Outcome of Infants With Confined Placental Mosaicism and Intrauterine Growth Restriction of Unknown Cause
Lethal Congenital Contracture Syndrome (LCCS) and Other Lethal Arthrogryposes in Finland—an Epidemiological Study
A Father of Four Consecutive Trisomic Pregnancies With Elevated Frequencies of Associated Aneuploid Sperm
A Novel Mutation in GDF5 Causes Autosomal Dominant Symphalangism in Two Chinese Families
Sedaghatian Spondylometaphyseal Dysplasia With Pachygyria and Absence of the Corpus Callosum
Major Feeding Difficulties in the First Reported Case of Interstitial 20q11.22-q12 Microdeletion and Molecular Cytogenetic Characterization
A Novel 8.5 MB dup(1)(p34.1p34.3) Characterized by FISH in a Child Presenting With Congenital Heart Defect and Dysmorphic Features
Determination of the Sexual Phenotype in a Child With 45,X/46,X,Idic(Yp) Mosaicism
Identification of a Novel Polymorphism—the Duplication of the NPHP1 (Nephronophthisis 1) Gene
Contiguous Hemizygous Deletion of TBX5, TBX3 , and RBM19 Resulting in a Combined Phenotype of Holt-Oram and Ulnar-Mammary Syndromes
Multiple Aneuploidy Recurrence Risk
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