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(25 - 44 of 44)
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A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Central 22q11.2 Deletions
A Terminal 3p26.3 Deletion Is Not Associated With Dysmorphic Features and Intellectual Disability in a Four-Generation Family
Characteristic Brain Magnetic Resonance Imaging Pattern in Patients With Macrocephaly and PTEN Mutations
Biallelic SEMA3A Defects Cause a Novel Type of Syndromic Short Stature
GPSM2 and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America
Phelan-McDermid syndrome: Clinical report of a 70-year-old woman
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
Maternally Inherited Partial Monosomy 9p (pter -> p24.1) and Partial Trisomy 20p (pter -> p12.1) Characterized by Microarray Comparative Genomic Hybridization
Automated Syndrome Detection in a Set of Clinical Facial Photographs
Discordance for Schimmelpenning-Feuerstein-Mims Syndrome in Monochorionic Twins Supports the Concept of a Postzygotic Mutation
Communication of Biobanks' Research Results: What Do (Potential) Participants Want?
Interstitial duplication in the proximal long arm of chromosome 16
Interstitial Duplication in the Proximal Long Arm of Chromosome 16
Investigation of a Patient With a Partial Trisomy 16q Including the Fat Mass and Obesity Associated Gene (FTO): Fine Mapping and FTO Gene Expression Study
Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation
A Complex Chromosome 7q Rearrangement Identified in a Patient With Mental Retardation, Anxiety Disorder, and Autistic Features
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features
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