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The Journal of Pediatrics
|
December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism
Isabelle R Miousse, David Watkins, David Coelho, et al.
Pediatrics
|
October 18, 2006
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)
Joseph T C Shieh, Petra Swidler, John A Martignetti, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
Alfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2014
Clinical whole-exome sequencing: are we there yet?
Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.
Molecular Genetics and Metabolism
|
September 4, 2016
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders
J Vockley, J Charrow, J Ganesh, et al.
The Journal of Pediatrics
|
November 1, 2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins
Gregory M Enns, Robert D Steiner, Neil Buist, et al.
Bioorganic & Medicinal Chemistry Letters
|
May 24, 2011
α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging
William D Shrader, Akiko Amagata, Adam Barnes, et al.
Molecular Genetics and Metabolism
|
November 26, 2011
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Gregory M Enns, Stephen L Kinsman, Susan L Perlman, et al.
The Journal of Pediatrics
|
November 13, 2016
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature
Karl G Sylvester, Zachary J Kastenberg, R Larry Moss, et al.
Molecular Genetics and Metabolism
|
July 17, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
N M Gallant, K Leydiker, Y Wilnai, et al.
Page
of 21
Search research articles
Search
Showing results (151-160 of 208) with videos related to
Sort By:
Page
of 21
The Journal of Pediatrics
|
December 9, 2008
Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism
Isabelle R Miousse, David Watkins, David Coelho, et al.
Pediatrics
|
October 18, 2006
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)
Joseph T C Shieh, Petra Swidler, John A Martignetti, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
Alfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2014
Clinical whole-exome sequencing: are we there yet?
Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.
Molecular Genetics and Metabolism
|
September 4, 2016
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders
J Vockley, J Charrow, J Ganesh, et al.
The Journal of Pediatrics
|
November 1, 2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins
Gregory M Enns, Robert D Steiner, Neil Buist, et al.
Bioorganic & Medicinal Chemistry Letters
|
May 24, 2011
α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging
William D Shrader, Akiko Amagata, Adam Barnes, et al.
Molecular Genetics and Metabolism
|
November 26, 2011
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Gregory M Enns, Stephen L Kinsman, Susan L Perlman, et al.
The Journal of Pediatrics
|
November 13, 2016
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature
Karl G Sylvester, Zachary J Kastenberg, R Larry Moss, et al.
Molecular Genetics and Metabolism
|
July 17, 2017
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
N M Gallant, K Leydiker, Y Wilnai, et al.
Page
of 21