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Orphanet Journal of Rare Diseases
|
February 19, 2020
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
C Tornero, V Navarro-Compán, J A Tenorio, et al.
Journal of Clinical Microbiology
|
August 2, 2000
Diagnostic utility of a multiplex herpesvirus PCR assay performed with cerebrospinal fluid from human immunodeficiency virus-infected patients with neurological disorders
C Quereda, I Corral, F Laguna, et al.
Journal of Pharmaceutical Sciences
|
October 25, 2016
An S116R Phosphorylation Site Mutation in Human Fibroblast Growth Factor-1 Differentially Affects Mitogenic and Glucose-Lowering Activities
Xue Xia, Ozan S Kumru, Sachiko I Blaber, et al.
European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences
|
February 12, 2017
Extensive preclinical evaluation of an infliximab biosimilar candidate
M A Velasco-Velázquez, N Salinas-Jazmín, E Hisaki-Itaya, et al.
Genes
|
July 29, 2025
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn Syndrome
Julián Nevado, Raquel Blanco-Lago, Cristina Bel-Fenellós, et al.
Genetics and Molecular Biology
|
December 29, 2012
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
Leila C A Cardoso, Jair A Tenorio Castaño, Hanna S Pereira, et al.
Human Genomics
|
January 12, 2019
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population
J C Fernández-Lopez, S Romero-Córdoba, R Rebollar-Vega, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
September 20, 2011
A five-year perspective on the situation of haemorrhagic fever with renal syndrome and status of the hantavirus reservoirs in Europe, 2005-2010
P Heyman, C S Ceianu, I Christova, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine
|
October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Page
of 13
Search research articles
Search
Showing results (111-120 of 124) with videos related to
Sort By:
Page
of 13
Orphanet Journal of Rare Diseases
|
February 19, 2020
Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?
C Tornero, V Navarro-Compán, J A Tenorio, et al.
Journal of Clinical Microbiology
|
August 2, 2000
Diagnostic utility of a multiplex herpesvirus PCR assay performed with cerebrospinal fluid from human immunodeficiency virus-infected patients with neurological disorders
C Quereda, I Corral, F Laguna, et al.
Journal of Pharmaceutical Sciences
|
October 25, 2016
An S116R Phosphorylation Site Mutation in Human Fibroblast Growth Factor-1 Differentially Affects Mitogenic and Glucose-Lowering Activities
Xue Xia, Ozan S Kumru, Sachiko I Blaber, et al.
European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences
|
February 12, 2017
Extensive preclinical evaluation of an infliximab biosimilar candidate
M A Velasco-Velázquez, N Salinas-Jazmín, E Hisaki-Itaya, et al.
Genes
|
July 29, 2025
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn Syndrome
Julián Nevado, Raquel Blanco-Lago, Cristina Bel-Fenellós, et al.
Genetics and Molecular Biology
|
December 29, 2012
Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients
Leila C A Cardoso, Jair A Tenorio Castaño, Hanna S Pereira, et al.
Human Genomics
|
January 12, 2019
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population
J C Fernández-Lopez, S Romero-Córdoba, R Rebollar-Vega, et al.
Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin
|
September 20, 2011
A five-year perspective on the situation of haemorrhagic fever with renal syndrome and status of the hantavirus reservoirs in Europe, 2005-2010
P Heyman, C S Ceianu, I Christova, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Ebiomedicine
|
October 15, 2025
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
Leonardo Chimirri, J Harry Caufield, Yasemin Bridges, et al.
Page
of 13