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Dagan Jenkins

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

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Ebiomedicine|August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismWai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
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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.
Ebiomedicine|August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismWai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
Pageof 4