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American Journal of Human Genetics
|
December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
Saima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Human Mutation
|
January 9, 2008
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
Saima Riazuddin, Sabiha Nazli, Zubair M Ahmed, et al.
Clinical Pharmacokinetics
|
August 25, 2021
Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia
Ming Liang Chan, Yulan Qi, Kevin Larimore, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
December 23, 2025
Public Health
Natan Feter, Anamika Nanda, Sarah Hourihan, et al.
Circulation
|
October 12, 2000
Survival outcomes 1 year after reperfusion therapy with either alteplase or reteplase for acute myocardial infarction: results from the Global Utilization of Streptokinase and t-PA for Occluded Coronary Arteries (GUSTO) III Trial
E J Topol, E M Ohman, P W Armstrong, et al.
American Journal of Human Genetics
|
April 16, 1998
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
M D Briggs, G R Mortier, W G Cole, et al.
Molecular Genetics and Metabolism
|
January 29, 2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
Robert J Hopkin, Gustavo H Cabrera, John L Jefferies, et al.
European Journal of Human Genetics : EJHG
|
December 25, 2008
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Lance Doucette, Nancy D Merner, Sandra Cooke, et al.
Journal of Inherited Metabolic Disease
|
October 9, 2024
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies
Myrl Holida, Aleš Linhart, Antonio Pisani, et al.
Plos One
|
May 5, 2012
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation
Pavel Krejci, Anie Aklian, Marketa Kaucka, et al.
Page
of 63
Search research articles
Search
Showing results (581-590 of 627) with videos related to
Sort By:
Page
of 63
American Journal of Human Genetics
|
December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
Saima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Human Mutation
|
January 9, 2008
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function
Saima Riazuddin, Sabiha Nazli, Zubair M Ahmed, et al.
Clinical Pharmacokinetics
|
August 25, 2021
Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia
Ming Liang Chan, Yulan Qi, Kevin Larimore, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|
December 23, 2025
Public Health
Natan Feter, Anamika Nanda, Sarah Hourihan, et al.
Circulation
|
October 12, 2000
Survival outcomes 1 year after reperfusion therapy with either alteplase or reteplase for acute myocardial infarction: results from the Global Utilization of Streptokinase and t-PA for Occluded Coronary Arteries (GUSTO) III Trial
E J Topol, E M Ohman, P W Armstrong, et al.
American Journal of Human Genetics
|
April 16, 1998
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum
M D Briggs, G R Mortier, W G Cole, et al.
Molecular Genetics and Metabolism
|
January 29, 2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
Robert J Hopkin, Gustavo H Cabrera, John L Jefferies, et al.
European Journal of Human Genetics : EJHG
|
December 25, 2008
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15
Lance Doucette, Nancy D Merner, Sandra Cooke, et al.
Journal of Inherited Metabolic Disease
|
October 9, 2024
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies
Myrl Holida, Aleš Linhart, Antonio Pisani, et al.
Plos One
|
May 5, 2012
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation
Pavel Krejci, Anie Aklian, Marketa Kaucka, et al.
Page
of 63