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A Micheil Innes

Showing results (11-20 of 156) with videos related to

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American Journal of Medical Genetics. Part A|December 21, 2013
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizuresP Y Billie Au, Bob Argiropoulos, Jillian S Parboosingh, et al.
Paediatrics & Child Health|January 7, 2010
A rational approach to the child with mental retardation for the paediatricianJean-François Lemay, Anthony R Herbert, Deborah M Dewey, et al.
Journal of Registry Management|May 20, 2016
Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10Tanya Bedard, R Brian Lowry, Barbara Sibbald, et al.
Neuromuscular Disorders : NMD|January 15, 2013
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophyKatie M Wiltshire, Robert A Hegele, A Micheil Innes, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Unique disease heritage of the Dutch-German Mennonite populationNoelle C Orton, A Micheil Innes, Albert E Chudley, et al.
Molecular Brain|February 9, 2021
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel functionMaria A Gandini, Ivana A Souza, Laurent Ferron, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 9, 2024
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder geneHenri Margot, Adrien Pizano, Anouck Amestoy, et al.
Human Reproduction (Oxford, England)|December 23, 2006
Origin and outcome of pregnancies affected by androgenetic/biparental chimerismWendy P Robinson, Julie L Lauzon, A Micheil Innes, et al.
American Journal of Medical Genetics. Part A|December 23, 2015
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35Christopher Smith, Ryan E Lamont, Andrew Wade, et al.
Stem Cell Research|February 16, 2024
Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutationMichelle Hua, Laura Williams, Kaylan Burns, et al.
Pageof 16

Showing results (11-20 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|December 21, 2013
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizuresP Y Billie Au, Bob Argiropoulos, Jillian S Parboosingh, et al.
Paediatrics & Child Health|January 7, 2010
A rational approach to the child with mental retardation for the paediatricianJean-François Lemay, Anthony R Herbert, Deborah M Dewey, et al.
Journal of Registry Management|May 20, 2016
Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10Tanya Bedard, R Brian Lowry, Barbara Sibbald, et al.
Neuromuscular Disorders : NMD|January 15, 2013
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophyKatie M Wiltshire, Robert A Hegele, A Micheil Innes, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Unique disease heritage of the Dutch-German Mennonite populationNoelle C Orton, A Micheil Innes, Albert E Chudley, et al.
Molecular Brain|February 9, 2021
The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel functionMaria A Gandini, Ivana A Souza, Laurent Ferron, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 9, 2024
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder geneHenri Margot, Adrien Pizano, Anouck Amestoy, et al.
Human Reproduction (Oxford, England)|December 23, 2006
Origin and outcome of pregnancies affected by androgenetic/biparental chimerismWendy P Robinson, Julie L Lauzon, A Micheil Innes, et al.
American Journal of Medical Genetics. Part A|December 23, 2015
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35Christopher Smith, Ryan E Lamont, Andrew Wade, et al.
Stem Cell Research|February 16, 2024
Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutationMichelle Hua, Laura Williams, Kaylan Burns, et al.
Pageof 16