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Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
March 16, 2002
Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis
Anne Andermann, Isabelle Thiffault, Nora Wong, et al.
Frontiers in Cellular Neuroscience
|
August 21, 2023
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome <i>c</i> oxidase deficiency: a case report
Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, et al.
Human Mutation
|
October 13, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
Isabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, et al.
Neurogenetics
|
January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
Julia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Neurology
|
February 22, 2022
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults
Mackenzie A Michell-Robinson, Stefanie Perrier, Cassandra Lucia, et al.
American Journal of Medical Genetics. Part A
|
October 27, 2022
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia
Florencia Del Viso, Dihong Zhou, Isabelle Thiffault, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2016
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A
Allison M Jay, Robert L Conway, Isabelle Thiffault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 14, 2021
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care
Courtney Berrios, Emily A Hurley, Laurel Willig, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
March 6, 2012
TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1
Martine Tétreault, Maria Lisa Putorti, Isabelle Thiffault, et al.
Clinical Genetics
|
August 22, 2025
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, et al.
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Search research articles
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Showing results (11-20 of 139) with videos related to
Sort By:
Page
of 14
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
March 16, 2002
Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis
Anne Andermann, Isabelle Thiffault, Nora Wong, et al.
Frontiers in Cellular Neuroscience
|
August 21, 2023
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome <i>c</i> oxidase deficiency: a case report
Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, et al.
Human Mutation
|
October 13, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
Isabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, et al.
Neurogenetics
|
January 31, 2022
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
Julia Macintosh, Alexa Derksen, Chantal Poulin, et al.
Neurology
|
February 22, 2022
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults
Mackenzie A Michell-Robinson, Stefanie Perrier, Cassandra Lucia, et al.
American Journal of Medical Genetics. Part A
|
October 27, 2022
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia
Florencia Del Viso, Dihong Zhou, Isabelle Thiffault, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2016
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A
Allison M Jay, Robert L Conway, Isabelle Thiffault, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 14, 2021
Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care
Courtney Berrios, Emily A Hurley, Laurel Willig, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
March 6, 2012
TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1
Martine Tétreault, Maria Lisa Putorti, Isabelle Thiffault, et al.
Clinical Genetics
|
August 22, 2025
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, et al.
Page
of 14