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American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndrome
Naiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
European Journal of Human Genetics : EJHG
|
February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Nature Genetics
|
May 26, 2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Alicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, et al.
Immunity
|
December 16, 2018
Inference of the HIV-1 VRC01 Antibody Lineage Unmutated Common Ancestor Reveals Alternative Pathways to Overcome a Key Glycan Barrier
Mattia Bonsignori, Eric Scott, Kevin Wiehe, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 21, 2015
The human gene damage index as a gene-level approach to prioritizing exome variants
Yuval Itan, Lei Shang, Bertrand Boisson, et al.
Cell
|
August 6, 2013
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder
Naiara Akizu, Vincent Cantagrel, Jana Schroth, et al.
Molecular Ecology
|
May 10, 2021
Ancient horse genomes reveal the timing and extent of dispersals across the Bering Land Bridge
Alisa O Vershinina, Peter D Heintzman, Duane G Froese, et al.
Cell
|
April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
Ashleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Elife
|
May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Susanne Roosing, Matan Hofree, Sehyun Kim, et al.
Cancer Cell
|
November 18, 2022
Evaluation of cell-free DNA approaches for multi-cancer early detection
Arash Jamshidi, Minetta C Liu, Eric A Klein, et al.
Page
of 12
Search research articles
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Showing results (101-110 of 113) with videos related to
Sort By:
Page
of 12
American Journal of Human Genetics
|
December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndrome
Naiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
European Journal of Human Genetics : EJHG
|
February 7, 2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, et al.
Nature Genetics
|
May 26, 2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome
Alicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, et al.
Immunity
|
December 16, 2018
Inference of the HIV-1 VRC01 Antibody Lineage Unmutated Common Ancestor Reveals Alternative Pathways to Overcome a Key Glycan Barrier
Mattia Bonsignori, Eric Scott, Kevin Wiehe, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 21, 2015
The human gene damage index as a gene-level approach to prioritizing exome variants
Yuval Itan, Lei Shang, Bertrand Boisson, et al.
Cell
|
August 6, 2013
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder
Naiara Akizu, Vincent Cantagrel, Jana Schroth, et al.
Molecular Ecology
|
May 10, 2021
Ancient horse genomes reveal the timing and extent of dispersals across the Bering Land Bridge
Alisa O Vershinina, Peter D Heintzman, Duane G Froese, et al.
Cell
|
April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
Ashleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Elife
|
May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Susanne Roosing, Matan Hofree, Sehyun Kim, et al.
Cancer Cell
|
November 18, 2022
Evaluation of cell-free DNA approaches for multi-cancer early detection
Arash Jamshidi, Minetta C Liu, Eric A Klein, et al.
Page
of 12