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Sarah Bowdin

Showing results (1-10 of 34) with videos related to

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European Journal of Medical Genetics|November 15, 2017
Genome-wide sequencing expands the phenotypic spectrum of EP300 variantsGregory Costain, Peter Kannu, Sarah Bowdin
European Journal of Medical Genetics|August 23, 2012
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathiesNatalya Karp, Lars Grosse-Wortmann, Sarah Bowdin
Human Mutation|March 7, 2014
The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical careSarah Bowdin, Peter N Ray, Ronald D Cohn, et al.
Clinical Dysmorphology|December 13, 2006
Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndromeSarah Bowdin, Ethna Phelan, Rosemarie Watson, et al.
ERJ Open Research|May 2, 2019
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritisJonathan H Rayment, Rebekah Jobling, Sarah Bowdin, et al.
American Journal of Medical Genetics. Part A|June 23, 2015
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvementAyeshah Chaudhry, Peter Sabatini, Liping Han, et al.
Archives of Disease in Childhood. Education and Practice Edition|January 8, 2021
Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomicsLuke Daniel Perry, Sarah Louise Hogg, Sarah Bowdin, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
Mosaic trisomy 1q: The longest surviving caseChirag Patel, Graham Hardy, Phillip Cox, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 5, 2008
Beckwith Weidemann syndrome: a behavioral phenotype-genotype studyLindsey Kent, Sarah Bowdin, Gail A Kirby, et al.
European Journal of Medical Genetics|October 1, 2025
Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysisRavi Prabhakar More, Dulika Sumathipala, Helen Dolling, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
European Journal of Medical Genetics|November 15, 2017
Genome-wide sequencing expands the phenotypic spectrum of EP300 variantsGregory Costain, Peter Kannu, Sarah Bowdin
European Journal of Medical Genetics|August 23, 2012
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathiesNatalya Karp, Lars Grosse-Wortmann, Sarah Bowdin
Human Mutation|March 7, 2014
The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical careSarah Bowdin, Peter N Ray, Ronald D Cohn, et al.
Clinical Dysmorphology|December 13, 2006
Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndromeSarah Bowdin, Ethna Phelan, Rosemarie Watson, et al.
ERJ Open Research|May 2, 2019
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritisJonathan H Rayment, Rebekah Jobling, Sarah Bowdin, et al.
American Journal of Medical Genetics. Part A|June 23, 2015
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvementAyeshah Chaudhry, Peter Sabatini, Liping Han, et al.
Archives of Disease in Childhood. Education and Practice Edition|January 8, 2021
Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomicsLuke Daniel Perry, Sarah Louise Hogg, Sarah Bowdin, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
Mosaic trisomy 1q: The longest surviving caseChirag Patel, Graham Hardy, Phillip Cox, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 5, 2008
Beckwith Weidemann syndrome: a behavioral phenotype-genotype studyLindsey Kent, Sarah Bowdin, Gail A Kirby, et al.
European Journal of Medical Genetics|October 1, 2025
Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysisRavi Prabhakar More, Dulika Sumathipala, Helen Dolling, et al.
Pageof 4