Related Experiment Videos
Trisomy 18 mosaicism with few stigmata including macrogenitalia
American Journal of Medical Genetics
|January 1, 1987
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
A Brazilian galactosialidosis patient given renal transplantation: a case report.
Journal of inherited metabolic disease·2008
Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.
Clinical dysmorphology·2005
Prevalence of TEL/AML1 fusion gene in Brazilian pediatric patients with acute lymphoblastic leukemia.
Cancer genetics and cytogenetics·2004
Pre-clinical evaluation of probes to detect t(8;21) AML minimal residual disease by fluorescence in situ hybridization.
Genes, chromosomes & cancer·1998
Is there a relationship between inborn errors of metabolism and extensive mongolian spots?
American journal of medical genetics·1993
Idiopathic hemochromatosis in a young man presenting with palpitations.
Boletin de la Asociacion Medica de Puerto Rico·1991
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
Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.
Journal of clinical and experimental hepatology·2026
Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.
Ophthalmic surgery, lasers & imaging retina·2025
[Main Trunk Interposition for Adult Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery Using a Great Saphenous Vein:Report of a Case].
Kyobu geka. The Japanese journal of thoracic surgery·2025