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A Newbury

Showing results (21-30 of 33) with videos related to

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Clinical Dysmorphology|September 8, 2006
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 geneGabrielle S Sellick, Kristein P Hoornaert, Geert R Mortier, et al.
Cerebral Cortex (New York, N.Y. : 1991)|March 30, 2012
Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutantG D Rosen, N G Azoulay, E G Griffin, et al.
Prenatal Diagnosis|September 3, 2010
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthC G Steward, R A Newbury-Ecob, R Hastings, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|April 4, 2017
A multicentre study of patients with Timothy syndromeMark A Walsh, Christian Turner, Katherine W Timothy, et al.
Current Opinion in Hematology|November 20, 2018
Neutropenia in Barth syndrome: characteristics, risks, and managementColin G Steward, Sarah J Groves, Carolyn T Taylor, et al.
Human Molecular Genetics|July 7, 2001
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophyC Toomes, N J Marchbank, D A Mackey, et al.
American Journal of Human Genetics|January 20, 2007
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeEva Klopocki, Harald Schulze, Gabriele Strauss, et al.
American Journal of Human Genetics|April 23, 2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismHilde Van Esch, Rita Colnaghi, Kathleen Freson, et al.
Nature Genetics|January 1, 1997
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyQ Y Li, R A Newbury-Ecob, J A Terrett, et al.
Nature Genetics|March 1, 2005
Mutation in myosin heavy chain 6 causes atrial septal defectYung-Hao Ching, Tushar K Ghosh, Steve J Cross, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Clinical Dysmorphology|September 8, 2006
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 geneGabrielle S Sellick, Kristein P Hoornaert, Geert R Mortier, et al.
Cerebral Cortex (New York, N.Y. : 1991)|March 30, 2012
Bilateral subcortical heterotopia with partial callosal agenesis in a mouse mutantG D Rosen, N G Azoulay, E G Griffin, et al.
Prenatal Diagnosis|September 3, 2010
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirthC G Steward, R A Newbury-Ecob, R Hastings, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|April 4, 2017
A multicentre study of patients with Timothy syndromeMark A Walsh, Christian Turner, Katherine W Timothy, et al.
Current Opinion in Hematology|November 20, 2018
Neutropenia in Barth syndrome: characteristics, risks, and managementColin G Steward, Sarah J Groves, Carolyn T Taylor, et al.
Human Molecular Genetics|July 7, 2001
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophyC Toomes, N J Marchbank, D A Mackey, et al.
American Journal of Human Genetics|January 20, 2007
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeEva Klopocki, Harald Schulze, Gabriele Strauss, et al.
American Journal of Human Genetics|April 23, 2019
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and HypogonadismHilde Van Esch, Rita Colnaghi, Kathleen Freson, et al.
Nature Genetics|January 1, 1997
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene familyQ Y Li, R A Newbury-Ecob, J A Terrett, et al.
Nature Genetics|March 1, 2005
Mutation in myosin heavy chain 6 causes atrial septal defectYung-Hao Ching, Tushar K Ghosh, Steve J Cross, et al.
Pageof 4