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Colin A Johnson

Showing results (71-80 of 132) with videos related to

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American Journal of Human Genetics|December 13, 2006
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLekbir Baala, Stephane Romano, Rana Khaddour, et al.
Clinical and Translational Medicine|March 17, 2022
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cellsMaria Georgiou, Chunbo Yang, Robert Atkinson, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyteDavid A Parry, Clare V Logan, Bruce E Hayward, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 15, 2023
The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferaseIda Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, et al.
Investigative Ophthalmology & Visual Science|April 9, 2011
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityKamron Khan, Ahmed Al-Maskari, Martin McKibbin, et al.
American Journal of Human Genetics|October 4, 2016
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis ImperfectaDavid A Parry, Claire E L Smith, Walid El-Sayed, et al.
American Journal of Human Genetics|July 19, 2011
Disruption of a ciliary B9 protein complex causes Meckel syndromeWilliam E Dowdle, Jon F Robinson, Andreas Kneist, et al.
Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.
Pageof 14

Showing results (71-80 of 132) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|December 13, 2006
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndromeLekbir Baala, Stephane Romano, Rana Khaddour, et al.
Clinical and Translational Medicine|March 17, 2022
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cellsMaria Georgiou, Chunbo Yang, Robert Atkinson, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyteDavid A Parry, Clare V Logan, Bruce E Hayward, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 15, 2023
The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferaseIda Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, et al.
Investigative Ophthalmology & Visual Science|April 9, 2011
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityKamron Khan, Ahmed Al-Maskari, Martin McKibbin, et al.
American Journal of Human Genetics|October 4, 2016
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis ImperfectaDavid A Parry, Claire E L Smith, Walid El-Sayed, et al.
American Journal of Human Genetics|July 19, 2011
Disruption of a ciliary B9 protein complex causes Meckel syndromeWilliam E Dowdle, Jon F Robinson, Andreas Kneist, et al.
Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.
Pageof 14