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Ian M Carr

Showing results (71-80 of 96) with videos related to

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The Journal of Investigative Dermatology|September 21, 2019
IL-36 Promotes Systemic IFN-I Responses in Severe Forms of PsoriasisMarika Catapano, Marta Vergnano, Marco Romano, et al.
Vaccines|October 28, 2025
AGS-v PLUS, a Mosquito Salivary Peptide Vaccine, Modulates the Response to <i>Aedes</i> Mosquito Bites in HumansLiam Barningham, Ian M Carr, Siân Jossi, et al.
Human Mutation|August 24, 2012
Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnosticsPhilip A Chambers, Lucy F Stead, Joanne E Morgan, et al.
Human Mutation|April 5, 2013
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence dataIan M Carr, Joanne Morgan, Christopher Watson, et al.
American Journal of Human Genetics|June 5, 2002
Identification of microcephalin, a protein implicated in determining the size of the human brainAndrew P Jackson, Helen Eastwood, Sandra M Bell, et al.
American Journal of Human Genetics|November 10, 2009
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasiaMohammad R Abdollahi, Ewan Morrison, Tamara Sirey, 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|October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndromeRonja Hollstein, David A Parry, Lisa Nalbach, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, 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.
Pageof 10

Showing results (71-80 of 96) with videos related to

Sort By:
Pageof 10
The Journal of Investigative Dermatology|September 21, 2019
IL-36 Promotes Systemic IFN-I Responses in Severe Forms of PsoriasisMarika Catapano, Marta Vergnano, Marco Romano, et al.
Vaccines|October 28, 2025
AGS-v PLUS, a Mosquito Salivary Peptide Vaccine, Modulates the Response to <i>Aedes</i> Mosquito Bites in HumansLiam Barningham, Ian M Carr, Siân Jossi, et al.
Human Mutation|August 24, 2012
Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnosticsPhilip A Chambers, Lucy F Stead, Joanne E Morgan, et al.
Human Mutation|April 5, 2013
Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence dataIan M Carr, Joanne Morgan, Christopher Watson, et al.
American Journal of Human Genetics|June 5, 2002
Identification of microcephalin, a protein implicated in determining the size of the human brainAndrew P Jackson, Helen Eastwood, Sandra M Bell, et al.
American Journal of Human Genetics|November 10, 2009
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasiaMohammad R Abdollahi, Ewan Morrison, Tamara Sirey, 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|October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndromeRonja Hollstein, David A Parry, Lisa Nalbach, et al.
American Journal of Human Genetics|December 23, 2023
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genesErica L Harris, Vincent Roy, Martin Montagne, 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.
Pageof 10