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Showing 10 out of a total of 27 results for community: Dirección de Investigación. (0.021 seconds)

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XV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations

Repetto, Gabriela; Puga, Alonso; Delgado, Iris (Sociedad de Biología de Chile, 2007)
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Lay-Son, Guillermo; Espinoza, Karena; Vial, Cecilia; Rivera, Juan; Guzmán, María; Repetto, Gabriela (Sociedad Brasileira de Pediatria with Elsevier, 2015)
The genetic basis of DOORS syndrome: an exome-sequencing study

Campeau, Philippe; Kasperaviciute, Dalia; Lu, James; Burrage, Lindsay; Kim, Choel; Hori, Mutsuki; Powell, Berkley; Stewart, Fiona; Têmis, Maria Félix,; van den Ende, Jenneke; Wisniewska, Marzena; Kayserili, Hülya; Rump, Patrick; Nampoothiri, Sheela; Aftimos, Salim; Mey, Antje; Nair, Lal; Begleiter, Michael; De Bie, Isabelle; Meenakshi, Girish; Murray, Mitzi; Repetto, Gabriela; Golabi, Mahin; Blair, Edward; Male, Alison; Giuliano, Fabienne; Kariminejad, Ariana; Newmanab, William; Bhaskarab, Sanjeev; Dickersonab, Jonathan; Kerrab, Bronwyn; Bankaab, Siddharth; Giltay, Jacques; Wieczorek, Dagmar; Tostevin, Anna; Wiszniewska, Joanna; Cheung, Sau Wai; Hennekam, Raoul; Gibbs, Richard; Lee, Brendan; Sisodiya, Sanjay (Elsevier, 2014)
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Ballestrini, Simona; Mathieu, Milh; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea; Verstreken, Patrik; Cardon, Aaron; Gnidovec, Barbara; Holder, Lloyd; Lesca, Gaetan; Mancardi, María; Poulat, Anne; Repetto, Gabriela; et al. (Lippincott Williams & Wilkins, 2016)
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

Repetto, Gabriela; Guzmán, Maria Luisa; Delgado, Iris; Loyola, Hugo; Palomares, Mirta; Lay-Son, Guillermo; Vial, Cecilia; Benavides, Felipe; Espinoza, Karena; Alvarez, Patricia (BMJ Publishing Group, 2014)
Efecto de las variantes de VKORC1 y CYP2C9 sobre la dosis de anticoagulantes orales en individuos chilenos

Benavides, Felipe; Grossman, Nicole; Poggi, Helena; Nieto, Elena; Bertrán, Antonio; Araos, Daniel; Vásquez, Marcos; Ibarra, Ignaz; Caceres, Felipe; Espinoza, Karena; Lagos, Marcela; Repetto, Gabriela (Sociedad Medica de Santiago, 2015)
Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Fung, Wai Lun; Butcher, Nancy; Costain, Gregory; Andrade, Danielle; Boot, Erik; Chow, Eva; Chung, Brian; Cytrynbaum, Cheryl; Faghfoury, Hanna; Fishman, Leona; García-Miñaúr, Sixto; George, Susan; Lang, Anthony; Repetto, Gabriela; Shugar, Andrea; Silversides, Candice; Swillen, Ann; Van Amelsvoort, Therese; McDonald-McGinn, Donna; Bassett, Anne (Macmillan Publishers Limited, 2015)
Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency.

Ysunza, Pablo; Repetto, Gabriela; Pamplona, María; Calderón, Juan Francisco; Shaheen, Kenneth; Chaiyasate, Konkgrit; Rontal, Matthew (2015 Pablo Antonio Ysunza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited., 2015)
Genetic structure characterization of Chileans reflects historical immigration patterns

Eyheramendy, Susana; Martínez, Felipe; Manevy, Federico; Vial, Cecilia; Repetto, Gabriela (Macmillan Publishers Limited, 2015)
Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test.

Alliende, Francisco; Vial, Cecilia; Espinoza, Karen; Schnettle, Daniela; Romero, Victoria; Miquel, Isabel; Arancibia, María Eugenia; Ríos, Gloria; Rodríguez, Lorena; Quesada, Soledad; Lucero, Yalda; Repetto, Gabriela (Philadelphia, PA : Lippincott Williams & Wilkins, 2016)