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Fernando Scaglia

Showing results (31-40 of 190) with videos related to

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American Journal of Medical Genetics. Part A|May 15, 2009
The Xp contiguous deletion syndrome and autismMarwan Shinawi, Ankita Patel, Prisana Panichkul, et al.
American Journal of Medical Genetics. Part A|April 1, 2009
Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious pubertyShweta U Dhar, Patricia Robbins-Furman, Moise L Levy, et al.
Molecular Genetics and Metabolism|November 1, 2020
Clinical trials in mitochondrial disorders, an updateMohammed Almannai, Ayman W El-Hattab, May Ali, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiencyLaura Mackay, Charul Gijavanekar, Haley Streff, et al.
The International Journal of Biochemistry & Cell Biology|January 14, 2014
Mitochondria: role of citrulline and arginine supplementation in MELAS syndromeAyman W El-Hattab, Lisa T Emrick, Sirisak Chanprasert, et al.
The American Journal of Clinical Nutrition|October 3, 2003
Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriersFernando Scaglia, Juan Marini, Judy Rosenberger, et al.
Mitochondrion|September 26, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and managementSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]Svetlana A Yatsenko, Trilochan Sahoo, Melinda Rosenkranz, et al.
Molecular Genetics and Metabolism Reports|February 12, 2019
L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiencyClaudia Soler-Alfonso, Nishita Pillai, Erin Cooney, et al.
American Journal of Medical Genetics. Part A|January 22, 2004
Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancyPaolo Moretti, Maria Blazo, Leonardo Garcia, et al.
Pageof 19

Showing results (31-40 of 190) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|May 15, 2009
The Xp contiguous deletion syndrome and autismMarwan Shinawi, Ankita Patel, Prisana Panichkul, et al.
American Journal of Medical Genetics. Part A|April 1, 2009
Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious pubertyShweta U Dhar, Patricia Robbins-Furman, Moise L Levy, et al.
Molecular Genetics and Metabolism|November 1, 2020
Clinical trials in mitochondrial disorders, an updateMohammed Almannai, Ayman W El-Hattab, May Ali, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiencyLaura Mackay, Charul Gijavanekar, Haley Streff, et al.
The International Journal of Biochemistry & Cell Biology|January 14, 2014
Mitochondria: role of citrulline and arginine supplementation in MELAS syndromeAyman W El-Hattab, Lisa T Emrick, Sirisak Chanprasert, et al.
The American Journal of Clinical Nutrition|October 3, 2003
Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriersFernando Scaglia, Juan Marini, Judy Rosenberger, et al.
Mitochondrion|September 26, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and managementSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]Svetlana A Yatsenko, Trilochan Sahoo, Melinda Rosenkranz, et al.
Molecular Genetics and Metabolism Reports|February 12, 2019
L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiencyClaudia Soler-Alfonso, Nishita Pillai, Erin Cooney, et al.
American Journal of Medical Genetics. Part A|January 22, 2004
Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancyPaolo Moretti, Maria Blazo, Leonardo Garcia, et al.
Pageof 19