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Stem Cell Research
|
August 31, 2025
Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A
Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, et al.
International Journal of Molecular Sciences
|
September 13, 2025
Biallelic <i>BAIAP3</i> Variants Are Associated with Isolated Retinitis Pigmentosa
Viviana Cordeddu, Elisabetta Flex, Luca Mignini, et al.
Journal of Ultrasound
|
July 12, 2020
Can strain US-elastography with strain ratio (SRE) improve the diagnostic accuracy in the assessment of breast lesions? Preliminary results
Daniela Elia, Daniele Fresilli, Patrizia Pacini, et al.
Stem Cell Research
|
May 1, 2025
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation
Angela Maria Giada Giovenale, Elisa Maria Turco, Ilaria Ferrone, et al.
Human Mutation
|
July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
Rosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Infectious Agents and Cancer
|
October 22, 2022
Lactobacillus crispatus M247 oral administration: Is it really an effective strategy in the management of papillomavirus-infected women?
Miriam Dellino, Eliano Cascardi, Antonio Simone Laganà, et al.
Human Molecular Genetics
|
October 4, 2017
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome
Adrian Palencia-Campos, Asmat Ullah, Julian Nevado, et al.
Genes
|
January 25, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs
Rita Selvatici, Valentina Guida, Massimo Maffei, et al.
Human Mutation
|
September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene
Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
BMC Cancer
|
January 23, 2008
Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities
Joshua Z Press, Alessandro De Luca, Niki Boyd, et al.
Page
of 20
Search research articles
Search
Showing results (141-150 of 192) with videos related to
Sort By:
Page
of 20
Stem Cell Research
|
August 31, 2025
Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A
Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, et al.
International Journal of Molecular Sciences
|
September 13, 2025
Biallelic <i>BAIAP3</i> Variants Are Associated with Isolated Retinitis Pigmentosa
Viviana Cordeddu, Elisabetta Flex, Luca Mignini, et al.
Journal of Ultrasound
|
July 12, 2020
Can strain US-elastography with strain ratio (SRE) improve the diagnostic accuracy in the assessment of breast lesions? Preliminary results
Daniela Elia, Daniele Fresilli, Patrizia Pacini, et al.
Stem Cell Research
|
May 1, 2025
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation
Angela Maria Giada Giovenale, Elisa Maria Turco, Ilaria Ferrone, et al.
Human Mutation
|
July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
Rosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Infectious Agents and Cancer
|
October 22, 2022
Lactobacillus crispatus M247 oral administration: Is it really an effective strategy in the management of papillomavirus-infected women?
Miriam Dellino, Eliano Cascardi, Antonio Simone Laganà, et al.
Human Molecular Genetics
|
October 4, 2017
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome
Adrian Palencia-Campos, Asmat Ullah, Julian Nevado, et al.
Genes
|
January 25, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs
Rita Selvatici, Valentina Guida, Massimo Maffei, et al.
Human Mutation
|
September 9, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene
Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, et al.
BMC Cancer
|
January 23, 2008
Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities
Joshua Z Press, Alessandro De Luca, Niki Boyd, et al.
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of 20