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Clinical Genetics
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January 31, 2023
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
Francisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, et al.
Medicina (Kaunas, Lithuania)
|
September 28, 2021
Relation between Alpha-Synuclein and Core CSF Biomarkers of Alzheimer's Disease
Victoria Monge-García, María-Salud García-Ayllón, Javier Sáez-Valero, et al.
Scientific Reports
|
September 28, 2020
Differential epigenetic regulation between the alternative promoters, PRDM1α and PRDM1β, of the tumour suppressor gene PRDM1 in human multiple myeloma cells
Raquel Romero-García, Laura Gómez-Jaramillo, Rosa María Mateos, et al.
Frontiers in Oncology
|
March 11, 2026
Clinical outcomes and survival in patients with NSCLC and EGFR exon 20 mutations: evidence from real-world clinical practice in a retrospective study in Galicia
Begoña Campos Balea, Martín Emilio Lázaro Quintela, Ma Carmen Areses Manrique, et al.
Nature Communications
|
February 16, 2025
A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein synthesis regulation
Sophia Y Breusegem, Jack Houghton, Raquel Romero-Bueno, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 28, 2019
Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning
Raquel Romero, Arvind Ramanathan, Tony Yuen, et al.
Revista Do Instituto De Medicina Tropical De Sao Paulo
|
March 30, 2023
Can domestic dogs be considered a good reservoir of Leishmania (L.) infantum chagasi in an endemic area of nonulcerated cutaneous leishmaniasis in Southern Honduras?
Gabriela Beatriz Rodriguez Segura, Wilfredo Humberto Sosa Ochoa, Vânia Lúcia Ribeiro da Matta, et al.
International Journal of Molecular Sciences
|
December 10, 2021
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts
Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, et al.
Scientific Reports
|
June 21, 2022
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
Rosario López-Rodríguez, Marta Del Pozo-Valero, Marta Corton, et al.
Biomedicines
|
September 23, 2020
A Multi-Omics Approach Reveals New Signatures in Obese Allergic Asthmatic Children
Mª Amelia Gomez-Llorente, Ana Martínez-Cañavate, Natalia Chueca, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 50) with videos related to
Sort By:
Page
of 5
Clinical Genetics
|
January 31, 2023
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
Francisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, et al.
Medicina (Kaunas, Lithuania)
|
September 28, 2021
Relation between Alpha-Synuclein and Core CSF Biomarkers of Alzheimer's Disease
Victoria Monge-García, María-Salud García-Ayllón, Javier Sáez-Valero, et al.
Scientific Reports
|
September 28, 2020
Differential epigenetic regulation between the alternative promoters, PRDM1α and PRDM1β, of the tumour suppressor gene PRDM1 in human multiple myeloma cells
Raquel Romero-García, Laura Gómez-Jaramillo, Rosa María Mateos, et al.
Frontiers in Oncology
|
March 11, 2026
Clinical outcomes and survival in patients with NSCLC and EGFR exon 20 mutations: evidence from real-world clinical practice in a retrospective study in Galicia
Begoña Campos Balea, Martín Emilio Lázaro Quintela, Ma Carmen Areses Manrique, et al.
Nature Communications
|
February 16, 2025
A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein synthesis regulation
Sophia Y Breusegem, Jack Houghton, Raquel Romero-Bueno, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
February 28, 2019
Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning
Raquel Romero, Arvind Ramanathan, Tony Yuen, et al.
Revista Do Instituto De Medicina Tropical De Sao Paulo
|
March 30, 2023
Can domestic dogs be considered a good reservoir of Leishmania (L.) infantum chagasi in an endemic area of nonulcerated cutaneous leishmaniasis in Southern Honduras?
Gabriela Beatriz Rodriguez Segura, Wilfredo Humberto Sosa Ochoa, Vânia Lúcia Ribeiro da Matta, et al.
International Journal of Molecular Sciences
|
December 10, 2021
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts
Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, et al.
Scientific Reports
|
June 21, 2022
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
Rosario López-Rodríguez, Marta Del Pozo-Valero, Marta Corton, et al.
Biomedicines
|
September 23, 2020
A Multi-Omics Approach Reveals New Signatures in Obese Allergic Asthmatic Children
Mª Amelia Gomez-Llorente, Ana Martínez-Cañavate, Natalia Chueca, et al.
Page
of 5