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BENAVIDES GONZALEZ, FELIPE ORLANDO
Preferred name
BENAVIDES GONZALEZ, FELIPE ORLANDO
Main Affiliation
Email
fbenavides@udd.cl
Now showing
1 - 10 of 13
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PublicationEffect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals( 2015)
;Nicole Grossman ;Helena Poggi ;Elena Nieto ;Antonio Bertrán ;Daniel Araos ;Marcos Vásquez ;Ignaz Ibarra ;Felipe Cáceres ;Karena Espinoza ;Marcel LagosScopus© Citations 12 12 -
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Publication
Scopus© Citations 25 14 -
PublicationALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS( 2019)
;Gonzalo Dominguez-Menéndez ;Helena Poggi Mayorga ;Mónica ArancibiaAlejandro Martinez-AguayoScopus© Citations 6 14 -
PublicationDeletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2( 2018)
;Tingwei Guo ;Alexander Diacou ;Hiroko Nomaru ;Donna M McDonald-McGinn ;Matthew Hestand ;Wolfram Demaerel ;Liangtian Zhang ;Yingjie Zhao ;Francisco Ujueta ;Jidong Shan ;Cristina Montagna ;Deyou Zheng ;Terrence B Crowley ;Leila Kushan-Wells ;Carrie E Bearden ;Wendy R Kates ;Doron Gothelf ;Maude Schneider ;Stephan Eliez ;Jeroen Breckpot ;Ann Swillen ;Jacob Vorstman ;Elaine Zackai ;Beverly S Emanuel ;Anne S Bassett ;Joris R Vermeesch ;Christian R MarshallBernice E MorrowScopus© Citations 16 15 -
PublicationSomatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome( 2019)
;Abraham Urzua ;Sofia Burattini ;Constanza Pinochet31 -
PublicationHeterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome( 2018)
;Frédéric Ebstein ;Sarah K. Nicholas ;Marietta M. de Guzman ;Lisa R. Forbes ;Ivan K. Chinn ;Emily M. Mace ;Tiphanie P. Vogel ;Alexandre F. Carisey ;Zeynep H. Coban-Akdemir ;Richard A. Gibbs ;Shalini N. Jhangiani ;Donna M. Muzny ;Claudia M.B. Carvalho ;Deborah A. Schady ;Mahim Jain ;Jill A. Rosenfeld ;Lisa Emrick ;Richard A. Lewis ;Brendan Lee ;Barbara A. Zieba ;Sébastien Küry ;Elke Krüger ;James R. Lupski ;Bret L. BostwickJordan S. OrangeScopus© Citations 119 13 -
PublicationCase fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study( 2014)
;M Luisa Guzmán ;Hugo Loyola ;Mirta Palomares ;Guillermo Lay-Son ;Karena EspinozaPatricia AlvarezScopus© Citations 50 26 1 -
PublicationNo association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies( 2020)
;María I. Rivera-Hechem ;Tadeo Ramírez-ParadaValerio CapraroScopus© Citations 2 9