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Fernando Scaglia

Showing results (101-110 of 190) with videos related to

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Molecular Genetics and Metabolism|January 29, 2026
Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromesSteven H Lang, Naiga Cottingham, Colleen Donnelly, et al.
American Journal of Medical Genetics. Part A|July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresNishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2010
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variantsAyman W El-Hattab, Feng Zhang, Rolanda Maxim, et al.
American Journal of Medical Genetics. Part A|September 10, 2020
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiencyNishitha R Pillai, Hitha Amin, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part A|September 12, 2021
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delayJohn Odom, Hitha Amin, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part A|January 24, 2020
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertensionAlona Birjiniuk, Kevin E Glinton, Natalie Villafranco, et al.
BMC Neurology|March 4, 2024
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case reportAmeya S Walimbe, Keren Machol, Stephen F Kralik, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndromeKana Hosoki, Tohru Ohta, Jun Natsume, et al.
Molecular Genetics and Metabolism|November 28, 2008
Citrin deficiency, a perplexing global disorderDavid Dimmock, Bruno Maranda, Carlo Dionisi-Vici, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
Pageof 19

Showing results (101-110 of 190) with videos related to

Sort By:
Pageof 19
Molecular Genetics and Metabolism|January 29, 2026
Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromesSteven H Lang, Naiga Cottingham, Colleen Donnelly, et al.
American Journal of Medical Genetics. Part A|July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresNishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2010
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variantsAyman W El-Hattab, Feng Zhang, Rolanda Maxim, et al.
American Journal of Medical Genetics. Part A|September 10, 2020
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiencyNishitha R Pillai, Hitha Amin, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part A|September 12, 2021
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delayJohn Odom, Hitha Amin, Charul Gijavanekar, et al.
American Journal of Medical Genetics. Part A|January 24, 2020
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertensionAlona Birjiniuk, Kevin E Glinton, Natalie Villafranco, et al.
BMC Neurology|March 4, 2024
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case reportAmeya S Walimbe, Keren Machol, Stephen F Kralik, et al.
American Journal of Medical Genetics. Part A|June 20, 2012
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndromeKana Hosoki, Tohru Ohta, Jun Natsume, et al.
Molecular Genetics and Metabolism|November 28, 2008
Citrin deficiency, a perplexing global disorderDavid Dimmock, Bruno Maranda, Carlo Dionisi-Vici, et al.
Molecular Genetics and Metabolism|June 25, 2024
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluationRoni Zemet, Kyle D Hope, Andrew C Edmondson, et al.
Pageof 19