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American Journal of Medical Genetics. Part A
|
February 9, 2021
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease
Maxime Cadieux-Dion, Susan Hughes, Kendra Engleman, et al.
APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica
|
January 7, 2011
Pediatric gastrointestinal stromal tumor in association with neuroblastoma
Sheelah C Changho, J Allyson Niece, Carol Saunders, 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.
The Journal of Neuroscience Nursing : Journal of the American Association of Neuroscience Nurses
|
November 6, 2010
Introduction: adherence to disease-modifying therapies--key to optimizing outcomes in relapsing multiple sclerosis
Christina Caon, Carol Saunders, Jennifer Smrtka, et al.
Pediatric Dermatology
|
April 19, 2021
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings
Maxime Cadieux-Dion, Jennifer Gannon, Brandon Newell, et al.
Indian Journal of Pediatrics
|
October 29, 2014
Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing
Manisha Goyal, Sunita Bijarnia-Mahay, Stephen Kingsmore, 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.
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.
Multiple Sclerosis International
|
June 15, 2013
Assessing relapse in multiple sclerosis questionnaire: results of a pilot study
Amy Perrin Ross, Alona Williamson, Jennifer Smrtka, et al.
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of 6
Search research articles
Search
Showing results (11-20 of 60) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
February 9, 2021
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease
Maxime Cadieux-Dion, Susan Hughes, Kendra Engleman, et al.
APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica
|
January 7, 2011
Pediatric gastrointestinal stromal tumor in association with neuroblastoma
Sheelah C Changho, J Allyson Niece, Carol Saunders, 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.
The Journal of Neuroscience Nursing : Journal of the American Association of Neuroscience Nurses
|
November 6, 2010
Introduction: adherence to disease-modifying therapies--key to optimizing outcomes in relapsing multiple sclerosis
Christina Caon, Carol Saunders, Jennifer Smrtka, et al.
Pediatric Dermatology
|
April 19, 2021
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings
Maxime Cadieux-Dion, Jennifer Gannon, Brandon Newell, et al.
Indian Journal of Pediatrics
|
October 29, 2014
Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing
Manisha Goyal, Sunita Bijarnia-Mahay, Stephen Kingsmore, 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.
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.
Multiple Sclerosis International
|
June 15, 2013
Assessing relapse in multiple sclerosis questionnaire: results of a pilot study
Amy Perrin Ross, Alona Williamson, Jennifer Smrtka, et al.
Page
of 6