G. Kupchik

发表

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

C. Druschel, J. Kupferman, G. Kupchik, 2009, Pediatrics.

Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype.

M. Macera, A. Babu, M. Velinov, 2005, European journal of medical genetics.

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

M. Vazquez-Levin, H. Nagler, G. Kupchik, 1994, Journal of reproductive immunology.

More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.

F. Blei, M. A. Greco, H. Ginsburg, 2008, Lymphatic research and biology.

Genotype/phenotype discrepancies in cystic fibrosis

G. Kupchik, 1991, The Lancet.

PCR-based methylation testing for Prader-Willi or Angelman syndromes using archived fixed-cell suspensions.

M. Velinov, E. Jenkins, K. Shah, 2001, Genetic testing.

Genetic counseling for families of patients with fragile X syndrome.

G. Kupchik, S. Barrett, Tamara Drazin, 2004, JAMA.

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

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

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

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2021, Human mutation.

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

D. Warburton, S. Dhuper, M. Velinov, 2002, American journal of medical genetics.

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

M. Macera, A. Babu, M. Velinov, 2005 .

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

M. Macera, A. Babu, M. Velinov, 2004, European journal of medical genetics.