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Fernando Scaglia

Showing results (171-180 of 190) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2022
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patientsChristina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Genetics in Medicine Open|June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.
The New England Journal of Medicine|June 20, 2019
Reanalysis of Clinical Exome Sequencing DataPengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Pageof 19

Showing results (171-180 of 190) with videos related to

Sort By:
Pageof 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2022
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patientsChristina Y Miyake, Erica J Lay, Claudia Soler-Alfonso, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Nature Genetics|November 26, 2008
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Genetics in Medicine Open|June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.
The New England Journal of Medicine|June 20, 2019
Reanalysis of Clinical Exome Sequencing DataPengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Pageof 19