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Jaime Vengoechea

Showing results (31-40 of 34) with videos related to

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Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
The Lancet. Oncology|March 29, 2024
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort studyAyse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, et al.
Pageof 4

Showing results (31-40 of 34) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 34 results.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
The Lancet. Oncology|March 29, 2024
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort studyAyse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, et al.
Pageof 4