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David Mowat

Showing results (21-30 of 83) with videos related to

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American Journal of Medical Genetics. Part A|August 10, 2005
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutationJulie McGaughran, Stephen Sinnott, Florence Dastot-Le Moal, et al.
European Journal of Human Genetics : EJHG|June 26, 2022
Incidence of Duchenne muscular dystrophy in the modern era; an Australian studyDidu Kariyawasam, Arlene D'Silva, David Mowat, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology|April 3, 2002
In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophyDenise Ladwig, David Mowat, Vivienne Tobias, et al.
Pediatrics|September 22, 2016
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase DeficiencyHooi Ling Teoh, Alexander Solyom, Edward H Schuchman, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disabilityEmma Palmer, Helen Speirs, Peter J Taylor, et al.
American Journal of Medical Genetics. Part A|July 20, 2019
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencingCarey-Anne Evans, Jason Pinner, Cheng Y Chan, et al.
Muscle & Nerve|April 10, 2020
A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in parapleginColin J Mahoney, Thanuja Dharmadasa, William Huynh, et al.
European Journal of Medical Genetics|January 2, 2016
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencingNatalia Babkina, Joshua L Deignan, Hane Lee, et al.
Journal of Medical Genetics|July 1, 2018
Genetics of neuromuscular fetal akinesia in the genomics eraSarah Jane Beecroft, Marcus Lombard, David Mowat, et al.
European Journal of Medical Genetics|December 12, 2017
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiencyMathew Wallis, Alessandra Baumer, Wiam Smaili, et al.
Pageof 9

Showing results (21-30 of 83) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|August 10, 2005
Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutationJulie McGaughran, Stephen Sinnott, Florence Dastot-Le Moal, et al.
European Journal of Human Genetics : EJHG|June 26, 2022
Incidence of Duchenne muscular dystrophy in the modern era; an Australian studyDidu Kariyawasam, Arlene D'Silva, David Mowat, et al.
The Australian & New Zealand Journal of Obstetrics & Gynaecology|April 3, 2002
In utero fetal muscle biopsy in the diagnosis of Duchenne muscular dystrophyDenise Ladwig, David Mowat, Vivienne Tobias, et al.
Pediatrics|September 22, 2016
Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase DeficiencyHooi Ling Teoh, Alexander Solyom, Edward H Schuchman, et al.
American Journal of Medical Genetics. Part A|December 7, 2013
Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disabilityEmma Palmer, Helen Speirs, Peter J Taylor, et al.
American Journal of Medical Genetics. Part A|July 20, 2019
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencingCarey-Anne Evans, Jason Pinner, Cheng Y Chan, et al.
Muscle & Nerve|April 10, 2020
A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in parapleginColin J Mahoney, Thanuja Dharmadasa, William Huynh, et al.
European Journal of Medical Genetics|January 2, 2016
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencingNatalia Babkina, Joshua L Deignan, Hane Lee, et al.
Journal of Medical Genetics|July 1, 2018
Genetics of neuromuscular fetal akinesia in the genomics eraSarah Jane Beecroft, Marcus Lombard, David Mowat, et al.
European Journal of Medical Genetics|December 12, 2017
Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiencyMathew Wallis, Alessandra Baumer, Wiam Smaili, et al.
Pageof 9