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American Journal of Medical Genetics
|
September 5, 2002
Infantile hypotonia as a presentation of Rett syndrome
Heidi A Heilstedt, Mona D Shahbazian, Brendan Lee
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2012
Argininosuccinate lyase deficiency
Sandesh C S Nagamani, Ayelet Erez, Brendan Lee
Current Osteoporosis Reports
|
April 10, 2024
Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know
Emily Busse, Brendan Lee, Sandesh C S Nagamani
Annual Review of Medicine
|
January 27, 2022
What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
David R Murdock, Jill A Rosenfeld, Brendan Lee
The Journal of Nutrition
|
June 15, 2006
Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice
Juan C Marini, Brendan Lee, Peter J Garlick
Molecular Genetics and Metabolism
|
March 31, 2004
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients
Fernando Scaglia, Susan Carter, William E O'Brien, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
July 24, 2008
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
Marshall L Summar, Dries Dobbelaere, Saul Brusilow, et al.
American Journal of Physiology. Endocrinology and Metabolism
|
October 11, 2007
Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes
Juan C Marini, Ayelet Erez, Leticia Castillo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 5, 2016
Pharmacological and biological therapeutic strategies for osteogenesis imperfecta
Ronit Marom, Yi-Chien Lee, Ingo Grafe, et al.
The Journal of Nutrition
|
June 25, 2010
Plasma arginine and ornithine are the main citrulline precursors in mice infused with arginine-free diets
Juan C Marini, Inka Cajo Didelija, Leticia Castillo, et al.
Page
of 29
Search research articles
Search
Showing results (31-40 of 282) with videos related to
Sort By:
Page
of 29
American Journal of Medical Genetics
|
September 5, 2002
Infantile hypotonia as a presentation of Rett syndrome
Heidi A Heilstedt, Mona D Shahbazian, Brendan Lee
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2012
Argininosuccinate lyase deficiency
Sandesh C S Nagamani, Ayelet Erez, Brendan Lee
Current Osteoporosis Reports
|
April 10, 2024
Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know
Emily Busse, Brendan Lee, Sandesh C S Nagamani
Annual Review of Medicine
|
January 27, 2022
What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
David R Murdock, Jill A Rosenfeld, Brendan Lee
The Journal of Nutrition
|
June 15, 2006
Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice
Juan C Marini, Brendan Lee, Peter J Garlick
Molecular Genetics and Metabolism
|
March 31, 2004
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients
Fernando Scaglia, Susan Carter, William E O'Brien, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
July 24, 2008
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
Marshall L Summar, Dries Dobbelaere, Saul Brusilow, et al.
American Journal of Physiology. Endocrinology and Metabolism
|
October 11, 2007
Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes
Juan C Marini, Ayelet Erez, Leticia Castillo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 5, 2016
Pharmacological and biological therapeutic strategies for osteogenesis imperfecta
Ronit Marom, Yi-Chien Lee, Ingo Grafe, et al.
The Journal of Nutrition
|
June 25, 2010
Plasma arginine and ornithine are the main citrulline precursors in mice infused with arginine-free diets
Juan C Marini, Inka Cajo Didelija, Leticia Castillo, et al.
Page
of 29