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Colin A Johnson

Showing results (111-120 of 132) with videos related to

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Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Nature Genetics|February 8, 2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeIrene A Aligianis, Colin A Johnson, Paul Gissen, et al.
Nature Genetics|January 18, 2006
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratUrsula M Smith, Mark Consugar, Louise J Tee, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
American Journal of Human Genetics|August 16, 2016
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Hannah Kennedy, Tobias B Haack, Verity Hartill, et al.
Human Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.
Nature Genetics|June 15, 2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Lekbir Baala, Rémi Salomon, et al.
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Pageof 14

Showing results (111-120 of 132) with videos related to

Sort By:
Pageof 14
Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Nature Genetics|February 8, 2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndromeIrene A Aligianis, Colin A Johnson, Paul Gissen, et al.
Nature Genetics|January 18, 2006
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratUrsula M Smith, Mark Consugar, Louise J Tee, et al.
American Journal of Human Genetics|November 4, 2017
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and OsteopeniaThi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, et al.
Science (New York, N.Y.)|January 28, 2012
Evolutionarily assembled cis-regulatory module at a human ciliopathy locusJeong Ho Lee, Jennifer L Silhavy, Ji Eun Lee, et al.
American Journal of Human Genetics|August 16, 2016
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Hannah Kennedy, Tobias B Haack, Verity Hartill, et al.
Human Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.
Nature Genetics|June 15, 2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Lekbir Baala, Rémi Salomon, et al.
Nature Genetics|April 8, 2014
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeGhayda Mirzaa, David A Parry, Andrew E Fry, et al.
Nature Genetics|May 12, 2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesHemant Khanna, Erica E Davis, Carlos A Murga-Zamalloa, et al.
Pageof 14