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American Journal of Medical Genetics. Part A
|
June 15, 2011
Adults with Rubinstein-Taybi syndrome
Cathy A Stevens, Jill Pouncey, Darcy Knowles
American Journal of Medical Genetics. Part A
|
May 19, 2009
Familial odontoid hypoplasia
Cathy A Stevens, Richard G Pearce, Edward M Burton
American Journal of Medical Genetics. Part A
|
March 23, 2012
Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome
Cathy A Stevens, Pei-Wen Chiang, Ludwine M Messiaen
Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases
|
February 25, 2016
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed
Katherine Marie Varman, Kristen Dunbar, Katrin Usifo, et al.
Journal of Pediatric Hematology/Oncology
|
April 6, 2019
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])
Scott K Ward, Cathy A Stevens, Jennifer Keates-Baleeiro, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2020
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature
Faith Lindsay, Ilse Anderson, Ingrid M Wentzensen, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2003
Rubinstein-Taybi syndrome medical guidelines
Susan Wiley, Susan Swayne, Jack H Rubinstein, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2018
Congenital lumbar hernia-A feature of diabetic embryopathy?
Cathy A Stevens, Jacob S Hogue, Robert J Hopkin, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 7, 2018
A Homozygous RET K666N Genotype With an MEN2A Phenotype
Tania Jaber, Samuel M Hyde, Gilbert J Cote, et al.
American Journal of Respiratory and Critical Care Medicine
|
July 29, 2006
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood
Nick A Antic, Beth A Malow, Neale Lange, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
June 15, 2011
Adults with Rubinstein-Taybi syndrome
Cathy A Stevens, Jill Pouncey, Darcy Knowles
American Journal of Medical Genetics. Part A
|
May 19, 2009
Familial odontoid hypoplasia
Cathy A Stevens, Richard G Pearce, Edward M Burton
American Journal of Medical Genetics. Part A
|
March 23, 2012
Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome
Cathy A Stevens, Pei-Wen Chiang, Ludwine M Messiaen
Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases
|
February 25, 2016
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed
Katherine Marie Varman, Kristen Dunbar, Katrin Usifo, et al.
Journal of Pediatric Hematology/Oncology
|
April 6, 2019
Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])
Scott K Ward, Cathy A Stevens, Jennifer Keates-Baleeiro, et al.
American Journal of Medical Genetics. Part A
|
February 1, 2020
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature
Faith Lindsay, Ilse Anderson, Ingrid M Wentzensen, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2003
Rubinstein-Taybi syndrome medical guidelines
Susan Wiley, Susan Swayne, Jack H Rubinstein, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2018
Congenital lumbar hernia-A feature of diabetic embryopathy?
Cathy A Stevens, Jacob S Hogue, Robert J Hopkin, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 7, 2018
A Homozygous RET K666N Genotype With an MEN2A Phenotype
Tania Jaber, Samuel M Hyde, Gilbert J Cote, et al.
American Journal of Respiratory and Critical Care Medicine
|
July 29, 2006
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood
Nick A Antic, Beth A Malow, Neale Lange, et al.
Page
of 5