Homozygous Deletions of a Copy Number Change Detected by Array CGH
Secondary Medical Diagnosis in Fragile X Syndrome With and Without Autism Spectrum Disorder
Evaluation of Prenatal-Onset Osteochondrodysplasias by Ultrasonography
Aging in People With Specific Genetic Syndromes
15q13q14 Deletions
Analytical and Clinical Validity of Whole-Genome Oligonucleotide Array Comparative Genomic Hybridization for Pediatric Patients With Mental Retardation and Developmental Delay
Molecular and Clinical Characterization of Two Patients With Prader-Willi Syndrome and Atypical Deletions of Proximal Chromosome 15q
Mycophenolate Mofetil Embryopathy May Be Dose and Timing Dependent
Neocentromere Marker Chromosome of Distal 3q Mimicking dup(3q) Syndrome Phenotype
Spondylocostal Dysostosis in a Pregnancy Complicated by Confined Placental Mosaicism for Tetrasomy 9p
Clinical Variability in Acro-Cardio-Facial-Syndrome
Haplotype Analysis at the FRAXA Locus in an Indian Population
De novo and Complex Imbalanced Chromosomal Rearrangements Revealed by Array CGH in a Patient With an Abnormal Phenotype and Apparently “Balanced” Paracentric Inversion of 14(q21q23)
A 3 Mb Deletion in 14q12 Causes Severe Mental Retardation, Mild Facial Dysmorphisms and Rett-Like Features
A Report of a Patient With Interstitial Deletion of 15q22
Limb-Mammary Syndrome (LMS) Associated With Internal Female Genitalia Dysgenesia
Be Careful With Familial Unbalanced Chromosome Abnormalities!
Additional EFNB1 Mutations in Craniofrontonasal Syndrome
Clinical and Genetic Distinction of Schimke Immuno-Osseous Dysplasia and Cartilage-Hair Hypoplasia
A New Case of Proximal Monosomy 1p36, Extending the Phenotype
Genetic Disorders Associated With Macrocephaly