Search research articles
Contact Us
Filters
Showing results (1-10 of 30) with videos related to
Page
of 3
Sort By:
Plos One
|
October 6, 2015
Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data
Justin Foong, Marta Girdea, James Stavropoulos, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
Ashish R Deshwar, Lucie Dupuis, Carsten Bergmann, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2013
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy
Elaine Suk-Ying Goh, Brenda Banwell, Dimitri James Stavropoulos, et al.
Neurology. Genetics
|
April 12, 2016
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
Lance H Rodan, Maria Zak, James Stavropoulos, et al.
JAMA Neurology
|
August 29, 2017
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability
Felippe Borlot, Brigid M Regan, Anne S Bassett, et al.
American Journal of Medical Genetics. Part A
|
May 30, 2019
16q22.1 microdeletion and anticipatory guidance
Sarah Abdullah, Mayada Helal, Lucie Dupuis, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
Brian H Y Chung, James Stavropoulos, Christian R Marshall, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2022
Developmental implications of genetic testing for physical indications
Danielle A Baribeau, Ny Hoang, Thanuja Selvanayagam, et al.
American Journal of Medical Genetics. Part A
|
February 7, 2022
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome
Nadirah Damseh, Lucie Dupuis, Constance O'Connor, et al.
The Laryngoscope
|
March 1, 2024
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort
Emily R Wener, Jacob D McLennan, Blake C Papsin, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 30) with videos related to
Sort By:
Page
of 3
Plos One
|
October 6, 2015
Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data
Justin Foong, Marta Girdea, James Stavropoulos, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
Ashish R Deshwar, Lucie Dupuis, Carsten Bergmann, et al.
American Journal of Medical Genetics. Part A
|
December 21, 2013
Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy
Elaine Suk-Ying Goh, Brenda Banwell, Dimitri James Stavropoulos, et al.
Neurology. Genetics
|
April 12, 2016
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
Lance H Rodan, Maria Zak, James Stavropoulos, et al.
JAMA Neurology
|
August 29, 2017
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability
Felippe Borlot, Brigid M Regan, Anne S Bassett, et al.
American Journal of Medical Genetics. Part A
|
May 30, 2019
16q22.1 microdeletion and anticipatory guidance
Sarah Abdullah, Mayada Helal, Lucie Dupuis, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
Brian H Y Chung, James Stavropoulos, Christian R Marshall, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2022
Developmental implications of genetic testing for physical indications
Danielle A Baribeau, Ny Hoang, Thanuja Selvanayagam, et al.
American Journal of Medical Genetics. Part A
|
February 7, 2022
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome
Nadirah Damseh, Lucie Dupuis, Constance O'Connor, et al.
The Laryngoscope
|
March 1, 2024
Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort
Emily R Wener, Jacob D McLennan, Blake C Papsin, et al.
Page
of 3