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Orphanet Journal of Rare Diseases
|
July 23, 2013
Fertility preservation in female classic galactosemia patients
Britt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Annals of the Child Neurology Society
|
August 29, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy
E Naomi Vos, Didem Demirbas, Lance Rodan, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations
Megan E Rech, John M McCarthy, Chun-An Chen, et al.
Molecular Genetics and Metabolism
|
April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG
Kyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism
|
August 24, 2020
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Brian J Shayota, Taraka R Donti, Jing Xiao, et al.
Molecular Genetics and Metabolism
|
April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies
Lance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
Neurology
|
April 19, 2013
Targeted exome sequencing of suspected mitochondrial disorders
Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 5, 2017
High serum serotonin in sudden infant death syndrome
Robin L Haynes, Andrew L Frelinger, Emma K Giles, et al.
Science Signaling
|
March 6, 2014
KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability
Geoffrey W Abbott, Kwok-Keung Tai, Daniel L Neverisky, et al.
Kidney International
|
January 17, 2014
Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study
Monika A Niewczas, Tammy L Sirich, Anna V Mathew, et al.
Page
of 14
Search research articles
Search
Showing results (101-110 of 138) with videos related to
Sort By:
Page
of 14
Orphanet Journal of Rare Diseases
|
July 23, 2013
Fertility preservation in female classic galactosemia patients
Britt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Annals of the Child Neurology Society
|
August 29, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy
E Naomi Vos, Didem Demirbas, Lance Rodan, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2020
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations
Megan E Rech, John M McCarthy, Chun-An Chen, et al.
Molecular Genetics and Metabolism
|
April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG
Kyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism
|
August 24, 2020
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
Brian J Shayota, Taraka R Donti, Jing Xiao, et al.
Molecular Genetics and Metabolism
|
April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies
Lance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
Neurology
|
April 19, 2013
Targeted exome sequencing of suspected mitochondrial disorders
Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 5, 2017
High serum serotonin in sudden infant death syndrome
Robin L Haynes, Andrew L Frelinger, Emma K Giles, et al.
Science Signaling
|
March 6, 2014
KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability
Geoffrey W Abbott, Kwok-Keung Tai, Daniel L Neverisky, et al.
Kidney International
|
January 17, 2014
Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study
Monika A Niewczas, Tammy L Sirich, Anna V Mathew, et al.
Page
of 14