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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2026
Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions
Christian M Parobek, Roni Zemet, Vivienne Souter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Annals of the Royal College of Surgeons of England
|
September 12, 2019
Preoperative oral antibiotic bowel preparation in elective resectional colorectal surgery reduces rates of surgical site infections: a single-centre experience with a cost-effectiveness analysis
B Vadhwana, A Pouzi, G Surjus Kaneta, et al.
Journal of Child Neurology
|
July 11, 2007
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children
Margaret A K Glasmacher, V Reid Sutton, Bobbi Hopkins, et al.
Molecular Genetics and Metabolism
|
July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening
Mohammed Almannai, Ronit Marom, Kristian Divin, et al.
Human Genetics
|
January 1, 2009
Non-random X chromosome inactivation in Aicardi syndrome
Tanya N Eble, V Reid Sutton, Haleh Sangi-Haghpeykar, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
Aaron Williams, Kristian Divin, Lindsay C Burrage, et al.
Page
of 28
Search research articles
Search
Showing results (141-150 of 276) with videos related to
Sort By:
Page
of 28
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2026
Reproductive Carrier Screening Detects Early Actionable Metabolic Conditions
Christian M Parobek, Roni Zemet, Vivienne Souter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Annals of the Royal College of Surgeons of England
|
September 12, 2019
Preoperative oral antibiotic bowel preparation in elective resectional colorectal surgery reduces rates of surgical site infections: a single-centre experience with a cost-effectiveness analysis
B Vadhwana, A Pouzi, G Surjus Kaneta, et al.
Journal of Child Neurology
|
July 11, 2007
Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children
Margaret A K Glasmacher, V Reid Sutton, Bobbi Hopkins, et al.
Molecular Genetics and Metabolism
|
July 12, 2017
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening
Mohammed Almannai, Ronit Marom, Kristian Divin, et al.
Human Genetics
|
January 1, 2009
Non-random X chromosome inactivation in Aicardi syndrome
Tanya N Eble, V Reid Sutton, Haleh Sangi-Haghpeykar, et al.
American Journal of Medical Genetics. Part A
|
April 6, 2026
Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency
Aaron Williams, Kristian Divin, Lindsay C Burrage, et al.
Page
of 28