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Molecular Genetics and Metabolism
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March 21, 2006
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Gregory M Enns, Ren-Kui Bai, Anita E Beck, et al.
Molecular Genetics and Metabolism
|
August 5, 2019
Perspectives on urea cycle disorder management: Results of a clinician survey
Gregory M Enns, Marty H Porter, Megan Francis-Sedlak, et al.
Obstetrics and Gynecology
|
May 3, 2005
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency
Gregory M Enns, William E O'Brien, Keiko Kobayashi, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
Anna-Kaisa Niemi, Candida Brown, Tereza Moore, et al.
Mitochondrion
|
September 26, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pediatric Neurology
|
March 25, 2008
Dopa-responsive dystonia presenting as delayed and awkward gait
Benjamin N R Cheyette, Sarah N R Cheyette, Kristina Cusmano-Ozog, et al.
Journal of Neurosurgery
|
May 10, 2008
Glutaric acidemia type I: a neurosurgical perspective. Report of two cases
Lewis C Hou, Anand Veeravagu, Andrew R Hsu, et al.
International Journal of Neonatal Screening
|
March 20, 2020
Reducing False-Positive Results in Newborn Screening Using Machine Learning
Gang Peng, Yishuo Tang, Tina M Cowan, et al.
Journal of Pediatric Hematology/Oncology
|
July 1, 2009
Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta
Omar A Abdul-Rahman, Emma L Edghill, Andrea Kwan, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2018
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
Manar Zaghlula, Daniel G Glaze, Gregory M Enns, et al.
Page
of 14
Search research articles
Search
Showing results (21-30 of 135) with videos related to
Sort By:
Page
of 14
Molecular Genetics and Metabolism
|
March 21, 2006
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Gregory M Enns, Ren-Kui Bai, Anita E Beck, et al.
Molecular Genetics and Metabolism
|
August 5, 2019
Perspectives on urea cycle disorder management: Results of a clinician survey
Gregory M Enns, Marty H Porter, Megan Francis-Sedlak, et al.
Obstetrics and Gynecology
|
May 3, 2005
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency
Gregory M Enns, William E O'Brien, Keiko Kobayashi, et al.
Molecular Genetics and Metabolism Reports
|
November 30, 2016
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency
Anna-Kaisa Niemi, Candida Brown, Tereza Moore, et al.
Mitochondrion
|
September 26, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management
Sumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pediatric Neurology
|
March 25, 2008
Dopa-responsive dystonia presenting as delayed and awkward gait
Benjamin N R Cheyette, Sarah N R Cheyette, Kristina Cusmano-Ozog, et al.
Journal of Neurosurgery
|
May 10, 2008
Glutaric acidemia type I: a neurosurgical perspective. Report of two cases
Lewis C Hou, Anand Veeravagu, Andrew R Hsu, et al.
International Journal of Neonatal Screening
|
March 20, 2020
Reducing False-Positive Results in Newborn Screening Using Machine Learning
Gang Peng, Yishuo Tang, Tina M Cowan, et al.
Journal of Pediatric Hematology/Oncology
|
July 1, 2009
Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta
Omar A Abdul-Rahman, Emma L Edghill, Andrea Kwan, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2018
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
Manar Zaghlula, Daniel G Glaze, Gregory M Enns, et al.
Page
of 14