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European Journal of Human Genetics : EJHG
|
May 28, 2023
Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome
Krista M Vincent, Gail E Graham
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
April 26, 2011
Hyperekplexia: treatment of a severe phenotype and review of the literature
Aleksandra Mineyko, Sharon Whiting, Gail E Graham
Familial Cancer
|
February 10, 2018
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC)
Priya T Bhola, Cathy Gilpin, Amanda Smith, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2019
A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care
Priya T Bhola, Clare Liddy, Amir Afkham, et al.
American Journal of Medical Genetics. Part A
|
January 24, 2009
Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations
Melissa T Carter, David J Picketts, Alasdair G Hunter, et al.
Canadian Family Physician Medecin De Famille Canadien
|
September 13, 2022
Health care implications of the Genetic Non-Discrimination Act: Protection for Canadians' genetic information
James S Cowan, Barbara Laine Kagedan, Gail E Graham, et al.
Canadian Family Physician Medecin De Famille Canadien
|
September 13, 2022
James S Cowan, Barbara Laine Kagedan, Gail E Graham, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome
W Al-Hertani, V A Hastings, J McGowan-Jordan, et al.
Frontiers in Neurology
|
March 3, 2020
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in <i>SCN4A</i>
Nathaniel Elia, Trystan Nault, Hugh J McMillan, et al.
Frontiers in Neurology
|
April 9, 2020
Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in <i>SCN4A</i>
Nathaniel Elia, Trystan Nault, Hugh J McMillan, et al.
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of 5
Search research articles
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Showing results (1-10 of 46) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
May 28, 2023
Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome
Krista M Vincent, Gail E Graham
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
April 26, 2011
Hyperekplexia: treatment of a severe phenotype and review of the literature
Aleksandra Mineyko, Sharon Whiting, Gail E Graham
Familial Cancer
|
February 10, 2018
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC)
Priya T Bhola, Cathy Gilpin, Amanda Smith, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2019
A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care
Priya T Bhola, Clare Liddy, Amir Afkham, et al.
American Journal of Medical Genetics. Part A
|
January 24, 2009
Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations
Melissa T Carter, David J Picketts, Alasdair G Hunter, et al.
Canadian Family Physician Medecin De Famille Canadien
|
September 13, 2022
Health care implications of the Genetic Non-Discrimination Act: Protection for Canadians' genetic information
James S Cowan, Barbara Laine Kagedan, Gail E Graham, et al.
Canadian Family Physician Medecin De Famille Canadien
|
September 13, 2022
James S Cowan, Barbara Laine Kagedan, Gail E Graham, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome
W Al-Hertani, V A Hastings, J McGowan-Jordan, et al.
Frontiers in Neurology
|
March 3, 2020
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in <i>SCN4A</i>
Nathaniel Elia, Trystan Nault, Hugh J McMillan, et al.
Frontiers in Neurology
|
April 9, 2020
Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in <i>SCN4A</i>
Nathaniel Elia, Trystan Nault, Hugh J McMillan, et al.
Page
of 5