Gabriel S. Kupchik

Increased Prevalence of Renal and Urinary Tract Anomalies in Children With Down Syndrome

Juan C. Kupferman, Charlotte M. Druschel, Gabriel S. Kupchik · PEDIATRICS · 2009 · 80 citations

Medicine, Pediatrics, Urology +16

Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation

Gabriel S. Kupchik, Shannon K. Barrett, Arvind Babu et al. · European Journal of Medical Genetics · 2005 · 75 citations

Life Sciences, Genetics, Molecular Genetics +15

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Rosalind Verheije, Gabriel S. Kupchik, Bertrand Isidor et al. · European Journal of Human Genetics · 2018 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cystic fibrosis and congenital agenesis of the vas deferens, antisperm antibodies and CF-genotype

Mónica H. Vazquez‐Levin, Gabriel S. Kupchik, Yanneth Torres et al. · Journal of Reproductive Immunology · 1994 · 19 citations

Medicine, Genetics, Pediatrics +12

Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation

Milen Velinov, Hong Gu, Keame Yeboa et al. · American Journal of Medical Genetics · 2001 · 17 citations

Life Sciences, Genetics, Cytogenetics +15