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Search Results - Kupchik, Gabriel
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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
by
Verheije, Rosalind
,
Kupchik, Gabriel S
,
Isidor, Bertrand
,
Kroes, Hester Y
,
Lynch, Sally Ann
,
Hawkes, Lara
,
Hempel, Maja
,
Gelb, Bruce D
,
Ghoumid, Jamal
,
D'Amours, Guylaine
,
Chandler, Kate
,
Dubourg, Christèle
,
Loddo, Sara
,
Tümer, Zeynep
,
Shaw-Smith, Charles
,
Nizon, Mathilde
,
Shevell, Michael
,
Van Hoof, Evelien
,
Anyane-Yeboa, Kwame
,
Cerbone, Gaetana
,
Clayton-Smith, Jill
,
Cogné, Benjamin
,
Corre, Pierre
,
Corveleyn, Anniek
,
De Borre, Marie
,
Hjortshøj, Tina Duelund
,
Fradin, Mélanie
,
Gewillig, Marc
,
Goldmuntz, Elizabeth
,
Hens, Greet
,
Lemyre, Emmanuelle
,
Journel, Hubert
,
Kini, Usha
,
Kortüm, Fanny
,
Le Caignec, Cedric
,
Novelli, Antonio
,
Odent, Sylvie
,
Petit, Florence
,
Revah-Politi, Anya
,
Stong, Nicholas
,
Strom, Tim M
,
van Binsbergen, Ellen
,
Devriendt, Koenraad
,
Breckpot, Jeroen
Published in
European journal of human genetics : EJHG
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Increased Prevalence of Renal and Urinary Tract Anomalies in Children With Down Syndrome
by
Kupferman, Juan C
,
Druschel, Charlotte M
,
Kupchik, Gabriel S
Published in
Pediatrics (Evanston)
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ScreenPlus: A comprehensive, multi-disorder newborn screening program
by
Kelly, Nicole R.
,
Orsini, Joseph J.
,
Goldenberg, Aaron J.
,
Mulrooney, Niamh S.
,
Boychuk, Natalie A.
,
Clarke, Megan J.
,
Paleologos, Katrina
,
Martin, Monica M.
,
McNeight, Hannah
,
Caggana, Michele
,
Bailey, Sean M.
,
Eiland, Lisa R.
,
Ganesh, Jaya
,
Kupchik, Gabriel
,
Lumba, Rishi
,
Nafday, Suhas
,
Stroustrup, Annemarie
,
Gelb, Michael H.
,
Wasserstein, Melissa P.
Published in
Molecular genetics and metabolism reports
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Genetic Counseling for Families of Patients With Fragile X Syndrome
by
Barrett, Shannon K
,
Drazin, Tamara
,
Rosa, Deborah
,
Kupchik, Gabriel S
Published in
JAMA : the journal of the American Medical Association
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The New York pilot newborn screen for lysosomal diseases: 40 month data
by
Wasserstein, Melissa
,
Bailey, Sean
,
Caggana, Michele
,
Desnick, Robert J
,
Holzman, Ian
,
Kelly, Nicole
,
Kupchik, Gabriel
,
Martin, Monica
,
Wasserman, Randi
,
Yang, Amy
,
Orsini, Joseph J
Published in
Molecular genetics and metabolism
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Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation
by
Kupchik, Gabriel S.
,
Barrett, Shannon K.
,
Babu, Arvind
,
Charria-Ortiz, Gustavo
,
Velinov, Milen
,
Macera, Michael J.
Published in
European journal of medical genetics
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Genotype/phenotype discrepancies in cystic fibrosis
by
Kupchik, Gabriel
Published in
The Lancet (British edition)
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Atypical 18p- syndrome associated with partial trisomy 16p in a chromosomally unbalanced child of consanguineous parents with an identical balanced translocation
by
KUPCHIK, G
,
BARRETT, S
,
BABU, A
,
CHARRIAORTIZ, G
,
VELINOV, M
,
MACERA, M
Published in
Annales de génétique
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alpha 2 delta -1 Signaling in Nucleus Accumbens Is Necessary for Cocaine-Induced Relapse
by
Spencer, Sade
,
Brown, Robyn M
,
Quintero, Gabriel C
,
Kupchik, Yonatan M
,
Thomas, Charles A
,
Reissner, Kathryn J
,
Kalivas, Peter W
Published in
The Journal of neuroscience
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α2δ-1 signaling in nucleus accumbens is necessary for cocaine-induced relapse
by
Spencer, Sade
,
Brown, Robyn M
,
Quintero, Gabriel C
,
Kupchik, Yonatan M
,
Thomas, Charles A
,
Reissner, Kathryn J
,
Kalivas, Peter W
Published in
The Journal of neuroscience
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