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Sze Chern Lim

Showing results (11-20 of 17) with videos related to

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Science Translational Medicine|January 27, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingSarah E Calvo, Alison G Compton, Steven G Hershman, et al.
American Journal of Human Genetics|January 28, 2014
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndromeSze Chern Lim, Katherine R Smith, David A Stroud, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Science Translational Medicine|January 27, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingSarah E Calvo, Alison G Compton, Steven G Hershman, et al.
American Journal of Human Genetics|January 28, 2014
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndromeSze Chern Lim, Katherine R Smith, David A Stroud, et al.
Journal of Medical Genetics|November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases ProgramThomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
American Journal of Human Genetics|February 23, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorderMartin Broly, Bogdan V Polevoda, Kamel M Awayda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2022
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndromeJet van der Spek, Joery den Hoed, Lot Snijders Blok, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 2