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Elisabeth Rosser

Showing results (11-20 of 24) with videos related to

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American Journal of Medical Genetics. Part A|December 2, 2017
Clinical and genetic characterization of AP4B1-associated SPG47Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, et al.
American Journal of Human Genetics|March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeIrene A Aligianis, Neil V Morgan, Marina Mione, et al.
Journal of Medical Genetics|May 8, 2021
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluationLauren M Cairns, Julia Rankin, Asma Hamad, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Mutations in CDK5RAP2 cause Seckel syndromeGökhan Yigit, Karen E Brown, Hülya Kayserili, et al.
Human Molecular Genetics|March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne, Suzanne E Clements, Evert Lamme, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersAlistair T Pagnamenta, Yoshiko Murakami, John M Taylor, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Frontiers in Cellular Neuroscience|December 12, 2018
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Suran Nethisinghe, Wei N Lim, Heather Ging, 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.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|December 2, 2017
Clinical and genetic characterization of AP4B1-associated SPG47Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, et al.
American Journal of Human Genetics|March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeIrene A Aligianis, Neil V Morgan, Marina Mione, et al.
Journal of Medical Genetics|May 8, 2021
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluationLauren M Cairns, Julia Rankin, Asma Hamad, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Mutations in CDK5RAP2 cause Seckel syndromeGökhan Yigit, Karen E Brown, Hülya Kayserili, et al.
Human Molecular Genetics|March 28, 2008
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne, Suzanne E Clements, Evert Lamme, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersAlistair T Pagnamenta, Yoshiko Murakami, John M Taylor, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Plos Genetics|March 12, 2019
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathyMark T Handley, Kaalak Reddy, Jimi Wills, et al.
Frontiers in Cellular Neuroscience|December 12, 2018
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Suran Nethisinghe, Wei N Lim, Heather Ging, 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.
Pageof 3