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Ebiomedicine
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August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism
Wai-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 syndrome
Anna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Nature Communications
|
May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten 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 Effects
Andreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
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Search research articles
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Showing results (31-40 of 34) with videos related to
Sort By:
Page
of 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 mechanism
Wai-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 syndrome
Anna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Nature Communications
|
May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten 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 Effects
Andreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.
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of 4