Related Experiment Videos
Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly
American Journal of Medical Genetics
|February 1, 1983
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
[TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy].
Klinische Monatsblatter fur Augenheilkunde·2015
[Genetic bases of Hirschsprung's disease].
Der Pathologe·2007
[Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2001
Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2).
American journal of medical genetics·2001
A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).
Cytogenetics and cell genetics·2001
Defects of blastogenesis.
American journal of medical genetics·2002
Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.
American journal of medical genetics·2002
Limb anomalies: Developmental and evolutionary aspects.
American journal of medical genetics·2002
Molecular etiology of gut malformations and diseases.
American journal of medical genetics·2002
Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).
American journal of medical genetics·2002
Three cases of tetrasomy 9p.
American journal of medical genetics·2002
Perioperative Challenges of Unrepaired Tetralogy of Fallot in a Child With Severe Secondary Erythrocytosis: Lessons for the Modern Era.
World journal for pediatric & congenital heart surgery·2026
Corrigendum to "Short-term Safety Profile of Trochanteric-entry Intramedullary Lengthening Nails in Skeletally Immature Patients" [J Pediatr Orthop Soc North Am 16 (2026) 100417].
Journal of the Pediatric Orthopaedic Society of North America·2026
Childhood-onset parkinsonism, dystonia and severe muscle wasting in a Sudanese girl caused by a novel homozygous DnaJ heat shock protein family (heat shock protein 40) member C6 frameshift variant, with an incidental pathogenic breast cancer 1 gene secondary finding: a case report.
Journal of medical case reports·2026
Intraparotid lipoma in a 15-year-old girl: MRI-based diagnosis of a rare parotid lesion.
Radiology case reports·2026