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Science Advances
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October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies
Kamal Khan, Erika Tavares, Katherine Bishara, et al.
American Journal of Human Genetics
|
July 16, 2013
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry
Rim Hjeij, Anna Lindstrand, Richard Francis, et al.
Human Mutation
|
November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Kamal Khan, Michael Zech, Angela T Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 16, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Vandana Shashi, Kelly Schoch, Rebecca Ganetzky, et al.
American Journal of Respiratory Cell and Molecular Biology
|
February 25, 2016
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Gerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, et al.
American Journal of Human Genetics
|
September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
Hammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Science (New York, N.Y.)
|
January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
Jeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
American Journal of Human Genetics
|
December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Lindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Nature Genetics
|
April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Corinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
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of 13
Search research articles
Search
Showing results (81-90 of 125) with videos related to
Sort By:
Page
of 13
Science Advances
|
October 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies
Kamal Khan, Erika Tavares, Katherine Bishara, et al.
American Journal of Human Genetics
|
July 16, 2013
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry
Rim Hjeij, Anna Lindstrand, Richard Francis, et al.
Human Mutation
|
November 1, 2020
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Daniel Epting, Lokuliyange D S Senaratne, Elisabeth Ott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Kamal Khan, Michael Zech, Angela T Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 16, 2023
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy
Vandana Shashi, Kelly Schoch, Rebecca Ganetzky, et al.
American Journal of Respiratory Cell and Molecular Biology
|
February 25, 2016
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Gerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, et al.
American Journal of Human Genetics
|
September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder
Hammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Science (New York, N.Y.)
|
January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus
Jeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
American Journal of Human Genetics
|
December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Lindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Nature Genetics
|
April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Corinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Page
of 13