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American Journal of Medical Genetics. Part A
|
April 10, 2025
Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
Federica Russo, Cecilia Daolio, Ester Di Muro, et al.
Biochimica Et Biophysica Acta. General Subjects
|
December 12, 2018
TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways
Santina Venuto, Stefano Castellana, Maria Monti, et al.
Human Mutation
|
February 12, 2014
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease
Ali Abdullah Alfaiz, Lucia Micale, Barbara Mandriani, et al.
European Journal of Human Genetics : EJHG
|
July 2, 2009
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient
Giovanni Battista Ferrero, Cédric Howald, Lucia Micale, et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society
|
June 15, 2026
Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant
Francesca Masciarelli, Domenico Dell'Aversana, Floriana Vitale, et al.
Stem Cell Research
|
June 14, 2022
Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant
Serena Calamaio, Marialaura Serzanti, Silvia Morlino, et al.
European Journal of Human Genetics : EJHG
|
February 22, 2019
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
Pietro Palumbo, Antonio Petracca, Roberto Maggi, et al.
Journal of Human Genetics
|
September 11, 2023
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
Carmela Fusco, Grazia Nardella, Silvia Morlino, et al.
Plos One
|
November 3, 2012
A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish
Lucia Micale, Maria Nicla Loviglio, Marta Manzoni, et al.
Clinical Genetics
|
December 29, 2020
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome
Silvia Majore, Emanuele Agolini, Lucia Micale, et al.
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Search research articles
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Showing results (21-30 of 72) with videos related to
Sort By:
Page
of 8
American Journal of Medical Genetics. Part A
|
April 10, 2025
Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
Federica Russo, Cecilia Daolio, Ester Di Muro, et al.
Biochimica Et Biophysica Acta. General Subjects
|
December 12, 2018
TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways
Santina Venuto, Stefano Castellana, Maria Monti, et al.
Human Mutation
|
February 12, 2014
TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease
Ali Abdullah Alfaiz, Lucia Micale, Barbara Mandriani, et al.
European Journal of Human Genetics : EJHG
|
July 2, 2009
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient
Giovanni Battista Ferrero, Cédric Howald, Lucia Micale, et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society
|
June 15, 2026
Co-occurrence of Chiari malformation type 1 and small fiber neuropathy in a family with a novel COL6A5 null variant
Francesca Masciarelli, Domenico Dell'Aversana, Floriana Vitale, et al.
Stem Cell Research
|
June 14, 2022
Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant
Serena Calamaio, Marialaura Serzanti, Silvia Morlino, et al.
European Journal of Human Genetics : EJHG
|
February 22, 2019
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
Pietro Palumbo, Antonio Petracca, Roberto Maggi, et al.
Journal of Human Genetics
|
September 11, 2023
Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle
Carmela Fusco, Grazia Nardella, Silvia Morlino, et al.
Plos One
|
November 3, 2012
A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish
Lucia Micale, Maria Nicla Loviglio, Marta Manzoni, et al.
Clinical Genetics
|
December 29, 2020
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome
Silvia Majore, Emanuele Agolini, Lucia Micale, et al.
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of 8