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Monkol Lek

Showing results (131-140 of 153) with videos related to

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Science Translational Medicine|January 22, 2016
Quantifying prion disease penetrance using large population control cohortsEric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Genome Medicine|October 2, 2015
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studiesYun R Li, Jessica van Setten, Shefali S Verma, et al.
Nature|August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansSanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
Nature Genetics|June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisAlan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
Journal of the American Society of Nephrology : JASN|August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary TractAmelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
Developmental Cell|April 2, 2019
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell ResolutionDeanne M Taylor, Bruce J Aronow, Kai Tan, et al.
Pageof 16

Showing results (131-140 of 153) with videos related to

Sort By:
Pageof 16
Science Translational Medicine|January 22, 2016
Quantifying prion disease penetrance using large population control cohortsEric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, et al.
Nature|May 29, 2020
The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Nature|February 4, 2021
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humansKonrad J Karczewski, Laurent C Francioli, Grace Tiao, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.
Genome Medicine|October 2, 2015
Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studiesYun R Li, Jessica van Setten, Shefali S Verma, et al.
Nature|August 10, 2021
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansSanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, et al.
Nature Genetics|June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisAlan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
Journal of the American Society of Nephrology : JASN|August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary TractAmelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.
Developmental Cell|April 2, 2019
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell ResolutionDeanne M Taylor, Bruce J Aronow, Kai Tan, et al.
Pageof 16