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The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 5, 2009
Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment
Rochelle A Yanofsky, Sashi S Seshia, Angelika J Dawson, et al.
Journal of Human Genetics
|
October 23, 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario
Erfan Aref-Eshghi, Jennifer Kerkhof, Deana Alexis Carere, et al.
Molecular Genetics and Metabolism
|
September 13, 2015
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014)
Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2015
Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population
Bita Hashemi, Anne Bassett, David Chitayat, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA
Shanlee Davis, Meredith A Ware, Jordan Zeiger, et al.
American Journal of Human Genetics
|
August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
Simon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.
Human Mutation
|
July 10, 2020
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
Chun-An Chen, Emeline Crutcher, Harinder Gill, et al.
Brain : a Journal of Neurology
|
March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
Sietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.
Clinical Genetics
|
June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study
Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Journal of Inherited Metabolic Disease
|
July 26, 2015
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups
Sara D Khangura, Kylie Tingley, Pranesh Chakraborty, et al.
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Search research articles
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Showing results (71-80 of 114) with videos related to
Sort By:
Page
of 12
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
August 5, 2009
Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment
Rochelle A Yanofsky, Sashi S Seshia, Angelika J Dawson, et al.
Journal of Human Genetics
|
October 23, 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario
Erfan Aref-Eshghi, Jennifer Kerkhof, Deana Alexis Carere, et al.
Molecular Genetics and Metabolism
|
September 13, 2015
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014)
Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2015
Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population
Bita Hashemi, Anne Bassett, David Chitayat, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA
Shanlee Davis, Meredith A Ware, Jordan Zeiger, et al.
American Journal of Human Genetics
|
August 5, 2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
Simon Edvardson, Claudia M Nicolae, Pankaj B Agrawal, et al.
Human Mutation
|
July 10, 2020
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
Chun-An Chen, Emeline Crutcher, Harinder Gill, et al.
Brain : a Journal of Neurology
|
March 14, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
Sietske H Kevelam, Marianna Bugiani, Gajja S Salomons, et al.
Clinical Genetics
|
June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study
Alexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Journal of Inherited Metabolic Disease
|
July 26, 2015
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups
Sara D Khangura, Kylie Tingley, Pranesh Chakraborty, et al.
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of 12