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Atherosclerosis Plus
|
January 16, 2023
Novel protein-truncating variant in the <i>APOB</i> gene may protect from coronary artery disease and adverse cardiovascular events
Gabriele Mango, Nicola Osti, Silvia Udali, et al.
International Journal of Molecular Sciences
|
December 11, 2025
Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity
Giorgia D'Este, Alejandro Giorgetti, Denise Cassandrini, et al.
Frontiers in Endocrinology
|
November 3, 2018
Evidence of Alternative Splicing as a Regulatory Mechanism for Kissr2 in Pejerrey Fish
Alejandro S Mechaly, M Oswaldo Tovar Bohórquez, Ariel E Mechaly, et al.
Molecular Psychiatry
|
January 4, 2022
Structure-function relationships of the disease-linked A218T oxytocin receptor variant
Magdalena Meyer, Benjamin Jurek, Mercedes Alfonso-Prieto, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 1, 2015
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation
Francesca Pizzolo, Simonetta Friso, Francesca Morandini, et al.
Clinical Genetics
|
August 8, 2023
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy
Valeria Guglielmi, Elia Pancheri, Elena Cannone, et al.
The FEBS Journal
|
May 3, 2025
The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis
Cristian Andres Carmona-Carmona, Giovanni Bisello, Rossella Franchini, et al.
Journal of Chemical Information and Modeling
|
December 11, 2025
Multiscale Computational Dissection of CCRL2-Mediated Chemerin Presentation
Arianna Migliorini, Samuele Di Cristofano, Klevia Dishnica, et al.
American Journal of Hematology
|
January 23, 2016
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload
Sadaf Badar, Fabiana Busti, Alberto Ferrarini, et al.
American Journal of Hematology
|
March 24, 2017
Identification of new BMP6 pro-peptide mutations in patients with iron overload
Chiara Piubelli, Annalisa Castagna, Giacomo Marchi, et al.
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Search research articles
Search
Showing results (81-90 of 100) with videos related to
Sort By:
Page
of 10
Atherosclerosis Plus
|
January 16, 2023
Novel protein-truncating variant in the <i>APOB</i> gene may protect from coronary artery disease and adverse cardiovascular events
Gabriele Mango, Nicola Osti, Silvia Udali, et al.
International Journal of Molecular Sciences
|
December 11, 2025
Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity
Giorgia D'Este, Alejandro Giorgetti, Denise Cassandrini, et al.
Frontiers in Endocrinology
|
November 3, 2018
Evidence of Alternative Splicing as a Regulatory Mechanism for Kissr2 in Pejerrey Fish
Alejandro S Mechaly, M Oswaldo Tovar Bohórquez, Ariel E Mechaly, et al.
Molecular Psychiatry
|
January 4, 2022
Structure-function relationships of the disease-linked A218T oxytocin receptor variant
Magdalena Meyer, Benjamin Jurek, Mercedes Alfonso-Prieto, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 1, 2015
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation
Francesca Pizzolo, Simonetta Friso, Francesca Morandini, et al.
Clinical Genetics
|
August 8, 2023
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy
Valeria Guglielmi, Elia Pancheri, Elena Cannone, et al.
The FEBS Journal
|
May 3, 2025
The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis
Cristian Andres Carmona-Carmona, Giovanni Bisello, Rossella Franchini, et al.
Journal of Chemical Information and Modeling
|
December 11, 2025
Multiscale Computational Dissection of CCRL2-Mediated Chemerin Presentation
Arianna Migliorini, Samuele Di Cristofano, Klevia Dishnica, et al.
American Journal of Hematology
|
January 23, 2016
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload
Sadaf Badar, Fabiana Busti, Alberto Ferrarini, et al.
American Journal of Hematology
|
March 24, 2017
Identification of new BMP6 pro-peptide mutations in patients with iron overload
Chiara Piubelli, Annalisa Castagna, Giacomo Marchi, et al.
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of 10