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REPETTO LISBOA, MARIA GABRIELA
Preferred name
REPETTO LISBOA, MARIA GABRIELA
Main Affiliation
Email
grepetto@udd.cl
ORCID
Scopus Author ID
57198456305
Now showing
1 - 10 of 98
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PublicationNistagmo secundario a albinismo con compromiso ocular en paciente femenina( 2020)
;Luisa Schonhaut B. ;Joanna Britzmann L. ;Mario Zanolli S. ;Jovanka Pavlov N. ;Trinidad Hasbun Z. -
PublicationPathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function( 2024)
;Murat Alpaslan ;Elodie Fastré ;Sandrine Mestre ;Arie van Haeringen ;Kathelijn Keymolen ;Laurence M Boon ;Florence Belva ;Guido Giacalone ;Nicole Revencu ;Yves Sznajer ;Katie Riches ;Vaughan Keeley ;Sahar Mansour ;Kristiana Gordon ;Silvia Martin-Almedina ;Sara Dobbins ;Pia Ostergaard ;Isabelle Quere ;Pascal BrouillardMiikka Vikkula13 -
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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 11 -
PublicationAdvancing diagnosis and research for rare genetic diseases in Indigenous peoples( 2024)
;Gareth Baynam ;Daria Julkowska ;Sarah Bowdin ;Azure Hermes ;Christopher R. McMaster ;Elissa Prichep ;Étienne Richer ;Francois H. van der Westhuizen ;Helen Malherbe ;Juergen K. V. Reichardt ;Laura Arbour ;Maui Hudson ;Kelly du Plessis ;Melissa Haendel ;Phillip Wilcox ;Sally Ann Lynch ;Shamir Rind ;Simon Easteal ;Xavier Estivill ;Nadine Caron ;Meck Chongo ;Yarlalu Thomas ;Mary Catherine V. LetinturierBarend Christiaan Vorster12 -
PublicationGenomic analysis in Chilean pediatric patients with drug-resistant epilepsy( 2023)
;Venegas, V. ;Villaman, C. ;Zakharova, A. ;Berrios, D. ;Lagos, C. ;Cavada, G. ;Carrasco, X. ;Manriquez, M.Buron, V.12 -
PublicationRare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome( 2017)
;Anne S. Bassett ;Chelsea Lowther ;Daniele Merico ;Gregory Costain ;Eva W. C. Chow ;Therese van Amelsvoort ;Donna McDonald-McGinn ;Raquel E. Gur ;Ann Swillen ;Marianne Van den Bree ;Kieran Murphy ;Doron Gothelf ;Carrie E. Bearden ;Stephan Eliez ;Wendy Kates ;Nicole Philip ;Vandana Sashi ;Linda Campbell ;Jacob Vorstman ;Joseph Cubells ;Tony Simon ;Erik Boot ;Tracy Heung ;Rens Evers ;Claudia Vingerhoets ;Esther van Duin ;Elaine Zackai ;Elfi Vergaelen ;Koen Devriendt ;Joris R. Vermeesch ;Michael Owen ;Clodagh Murphy ;Elena Michaelovosky ;Leila Kushan ;Maude Schneider ;Wanda Fremont ;Tiffany Busa ;Stephen Hooper ;Kathryn McCabe ;Sasja Duijff ;Karin Isaev ;Giovanna Pellecchia ;John Wei ;Matthew J. Gazzellone ;Stephen W. Scherer ;Beverly S. Emanuel ;Tingwei Guo ;Bernice E. MorrowChristian R. MarshallScopus© Citations 71 -
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PublicationGenomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis( 2024)
;Florencia Brito ;Catalina Lagos ;Jessica Cubillos ;Joan Orellana ;Mallen Gajardo ;Daniela Böhme ;Gonzalo Encina14