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Emily G Farrow

Showing results (21-30 of 58) with videos related to

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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 23, 2013
Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR miceErica L Clinkenbeard, Emily G Farrow, Lelia J Summers, et al.
Bone|November 15, 2008
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic ricketsEmily G Farrow, Siobhan I Davis, Leanne M Ward, et al.
Frontiers in Immunology|November 23, 2016
Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingVera Gallo, Laura Dotta, Giuliana Giardino, et al.
Human Mutation|April 8, 2015
Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall, Jean Muller, Gayle B Collin, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Nature Communications|September 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Neurobiology of Disease|July 10, 2017
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variantMichelle M Giddens, Jennifer C Wong, Jason P Schroeder, et al.
The Journal of Molecular Diagnostics : JMD|February 15, 2024
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing AnalysisBrian Lee, Lily Nasanovsky, Lishuang Shen, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
The Journal of General Physiology|October 28, 2015
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localizationIsabelle Thiffault, David J Speca, Daniel C Austin, et al.
Pageof 6

Showing results (21-30 of 58) with videos related to

Sort By:
Pageof 6
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 23, 2013
Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR miceErica L Clinkenbeard, Emily G Farrow, Lelia J Summers, et al.
Bone|November 15, 2008
Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic ricketsEmily G Farrow, Siobhan I Davis, Leanne M Ward, et al.
Frontiers in Immunology|November 23, 2016
Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingVera Gallo, Laura Dotta, Giuliana Giardino, et al.
Human Mutation|April 8, 2015
Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall, Jean Muller, Gayle B Collin, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Nature Communications|September 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Neurobiology of Disease|July 10, 2017
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variantMichelle M Giddens, Jennifer C Wong, Jason P Schroeder, et al.
The Journal of Molecular Diagnostics : JMD|February 15, 2024
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing AnalysisBrian Lee, Lily Nasanovsky, Lishuang Shen, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
The Journal of General Physiology|October 28, 2015
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localizationIsabelle Thiffault, David J Speca, Daniel C Austin, et al.
Pageof 6