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Clare V Logan

Showing results (11-20 of 48) with videos related to

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American Journal of Human Genetics|December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidDavid A Parry, Clare V Logan, Alexander P A Stegmann, et al.
The Journal of Allergy and Clinical Immunology|November 13, 2015
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencyDavid A Parry, Tim D Holmes, Nikita Gamper, 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.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
BMC Medical Genetics|May 1, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutationsAna Carolina Acevedo, James A Poulter, Priscila Gomes Alves, 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|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.
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.
Pageof 5

Showing results (11-20 of 48) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|December 3, 2013
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in GoosecoidDavid A Parry, Clare V Logan, Alexander P A Stegmann, et al.
The Journal of Allergy and Clinical Immunology|November 13, 2015
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencyDavid A Parry, Tim D Holmes, Nikita Gamper, 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.
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
BMC Medical Genetics|May 1, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutationsAna Carolina Acevedo, James A Poulter, Priscila Gomes Alves, 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|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.
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.
Pageof 5