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Fernando Scaglia

Showing results (151-160 of 190) with videos related to

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Nature Communications|June 28, 2017
A mitogenomic timetree for Darwin's enigmatic South American mammal Macrauchenia patachonicaMichael Westbury, Sina Baleka, Axel Barlow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Nature Ecology & Evolution|June 8, 2019
Palaeoproteomics resolves sloth relationshipsSamantha Presslee, Graham J Slater, François Pujos, et al.
European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
Molecular Genetics and Metabolism|November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoringSylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pageof 19

Showing results (151-160 of 190) with videos related to

Sort By:
Pageof 19
Nature Communications|June 28, 2017
A mitogenomic timetree for Darwin's enigmatic South American mammal Macrauchenia patachonicaMichael Westbury, Sina Baleka, Axel Barlow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.
Molecular Genetics and Metabolism|March 17, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)KimberlyA Kripps, Warapan Nakayuenyongsuk, Brian J Shayota, et al.
Nature Ecology & Evolution|June 8, 2019
Palaeoproteomics resolves sloth relationshipsSamantha Presslee, Graham J Slater, François Pujos, et al.
European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.
Molecular Genetics and Metabolism|November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoringSylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pageof 19