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Molecular Genetics and Metabolism
|
June 4, 2014
Improved standards for prenatal diagnosis of citrullinemia
Marcus J Miller, Claudia R Soler-Alfonso, Jaime E Grund, et al.
JIMD Reports
|
March 4, 2016
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
Marcus J Miller, Bret L Bostwick, Adam D Kennedy, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2009
A genome-wide screen for copy number alterations in Aicardi syndrome
Xiaoling Wang, V Reid Sutton, Tanya N Eble, et al.
JIMD Reports
|
December 1, 2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
Gerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, et al.
European Journal of Medical Genetics
|
December 30, 2018
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V
Jean-Marc Retrouvey, Doaa Taqi, Faleh Tamimi, et al.
Cell Reports
|
December 4, 2014
A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells
Jason Ross, Julia Busch, Ellen Mintz, et al.
Molecular Genetics and Metabolism
|
July 15, 2025
Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD
Matthew T Snyder, Kristian Divin, Ning Liu, et al.
Molecular Genetics and Metabolism
|
June 14, 2008
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
Paul J Isackson, Michael J Bennett, Uta Lichter-Konecki, et al.
Molecular Genetics and Metabolism
|
May 10, 2015
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Paldeep S Atwal, Taraka R Donti, Aaron L Cardon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 28, 2019
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta
Chaya N Murali, David Cuthbertson, Brady Slater, et al.
Page
of 19
Search research articles
Search
Showing results (51-60 of 184) with videos related to
Sort By:
Page
of 19
Molecular Genetics and Metabolism
|
June 4, 2014
Improved standards for prenatal diagnosis of citrullinemia
Marcus J Miller, Claudia R Soler-Alfonso, Jaime E Grund, et al.
JIMD Reports
|
March 4, 2016
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions
Marcus J Miller, Bret L Bostwick, Adam D Kennedy, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2009
A genome-wide screen for copy number alterations in Aicardi syndrome
Xiaoling Wang, V Reid Sutton, Tanya N Eble, et al.
JIMD Reports
|
December 1, 2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
Gerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, et al.
European Journal of Medical Genetics
|
December 30, 2018
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V
Jean-Marc Retrouvey, Doaa Taqi, Faleh Tamimi, et al.
Cell Reports
|
December 4, 2014
A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells
Jason Ross, Julia Busch, Ellen Mintz, et al.
Molecular Genetics and Metabolism
|
July 15, 2025
Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD
Matthew T Snyder, Kristian Divin, Ning Liu, et al.
Molecular Genetics and Metabolism
|
June 14, 2008
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
Paul J Isackson, Michael J Bennett, Uta Lichter-Konecki, et al.
Molecular Genetics and Metabolism
|
May 10, 2015
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
Paldeep S Atwal, Taraka R Donti, Aaron L Cardon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 28, 2019
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta
Chaya N Murali, David Cuthbertson, Brady Slater, et al.
Page
of 19