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Muscle & Nerve
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April 14, 2012
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation
Samiah A Al-Zaidy, Berivan Baskin, Cynthia Hawkins, et al.
Pediatric Research
|
June 18, 2009
Whole genome scanning: resolving clinical diagnosis and management amidst complex data
Sarah E Ali-Khan, Abdallah S Daar, Cheryl Shuman, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2003
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
Annette Feigenbaum, Robert Moore, Joe Clarke, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2007
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
Adam C Smith, Cheryl Shuman, David Chitayat, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
February 3, 2016
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability
Rudaina Banihani, Berivan Baskin, William Halliday, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues
Michal Inbar-Feigenberg, Sanaa Choufani, Cheryl Cytrynbaum, et al.
American Journal of Medical Genetics
|
January 25, 2002
Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making
Susan Zeesman, Donald T Whelan, Nancy Carson, et al.
Cancer Research
|
January 6, 2010
Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma
Ivan Pasic, Adam Shlien, Adam D Durbin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 22, 2014
Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention
Steven V Molinski, Tanja Gonska, Ling Jun Huan, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
February 10, 2010
Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations
Uri Tabori, Berivan Baskin, Mary Shago, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 62) with videos related to
Sort By:
Page
of 7
Muscle & Nerve
|
April 14, 2012
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation
Samiah A Al-Zaidy, Berivan Baskin, Cynthia Hawkins, et al.
Pediatric Research
|
June 18, 2009
Whole genome scanning: resolving clinical diagnosis and management amidst complex data
Sarah E Ali-Khan, Abdallah S Daar, Cheryl Shuman, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2003
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
Annette Feigenbaum, Robert Moore, Joe Clarke, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2007
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
Adam C Smith, Cheryl Shuman, David Chitayat, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP
|
February 3, 2016
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability
Rudaina Banihani, Berivan Baskin, William Halliday, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues
Michal Inbar-Feigenberg, Sanaa Choufani, Cheryl Cytrynbaum, et al.
American Journal of Medical Genetics
|
January 25, 2002
Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making
Susan Zeesman, Donald T Whelan, Nancy Carson, et al.
Cancer Research
|
January 6, 2010
Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcoma
Ivan Pasic, Adam Shlien, Adam D Durbin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 22, 2014
Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention
Steven V Molinski, Tanja Gonska, Ling Jun Huan, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
February 10, 2010
Universal poor survival in children with medulloblastoma harboring somatic TP53 mutations
Uri Tabori, Berivan Baskin, Mary Shago, et al.
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of 7