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Colin A Johnson

Showing results (61-70 of 132) with videos related to

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The Journal of Allergy and Clinical Immunology|November 13, 2015
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencyDavid A Parry, Tim D Holmes, Nikita Gamper, et al.
European Journal of Human Genetics : EJHG|November 16, 2006
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10Dominic R A White, Anuradha Ganesh, Darryl Nishimura, et al.
BMC Medical Genetics|May 1, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutationsAna Carolina Acevedo, James A Poulter, Priscila Gomes Alves, et al.
Human Molecular Genetics|December 23, 2006
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationHelen R Dawe, Ursula M Smith, Andrew R Cullinane, et al.
European Journal of Human Genetics : EJHG|November 26, 2024
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes projectVerity Hartill, Mitra Kabir, Sunayna Best, et al.
Communications Medicine|April 19, 2025
Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathiesClaire E L Smith, Andrew J Streets, Alice V R Lake, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
Journal of Medical Genetics|June 28, 2022
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approachSunayna Best, Jing Yu, Jenny Lord, et al.
American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.
Journal of Medical Genetics|November 12, 2010
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto, Gokul Ramaswami, Sabine Janssen, et al.
Pageof 14

Showing results (61-70 of 132) with videos related to

Sort By:
Pageof 14
The Journal of Allergy and Clinical Immunology|November 13, 2015
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencyDavid A Parry, Tim D Holmes, Nikita Gamper, et al.
European Journal of Human Genetics : EJHG|November 16, 2006
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10Dominic R A White, Anuradha Ganesh, Darryl Nishimura, et al.
BMC Medical Genetics|May 1, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutationsAna Carolina Acevedo, James A Poulter, Priscila Gomes Alves, et al.
Human Molecular Genetics|December 23, 2006
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationHelen R Dawe, Ursula M Smith, Andrew R Cullinane, et al.
European Journal of Human Genetics : EJHG|November 26, 2024
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes projectVerity Hartill, Mitra Kabir, Sunayna Best, et al.
Communications Medicine|April 19, 2025
Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathiesClaire E L Smith, Andrew J Streets, Alice V R Lake, et al.
American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.
Journal of Medical Genetics|June 28, 2022
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approachSunayna Best, Jing Yu, Jenny Lord, et al.
American Journal of Human Genetics|May 19, 2015
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMohammed E El-Asrag, Panagiotis I Sergouniotis, Martin McKibbin, et al.
Journal of Medical Genetics|November 12, 2010
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategyEdgar A Otto, Gokul Ramaswami, Sabine Janssen, et al.
Pageof 14