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Laura Planas-Serra

Showing results (11-20 of 20) with videos related to

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Neurology|January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationAgatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Genome Medicine|September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritizationAgatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, et al.
Ebiomedicine|April 19, 2021
Epigenome-wide association study of COVID-19 severity with respiratory failureManuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Ebiomedicine|March 1, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European malesMargherita Baldassarri, Nicola Picchiotti, Francesca Fava, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Science Immunology|August 20, 2021
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19Takaki Asano, Bertrand Boisson, Fanny Onodi, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Genome Medicine|April 5, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Neurology|January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationAgatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Genome Medicine|September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritizationAgatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, et al.
Ebiomedicine|April 19, 2021
Epigenome-wide association study of COVID-19 severity with respiratory failureManuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Ebiomedicine|March 1, 2021
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European malesMargherita Baldassarri, Nicola Picchiotti, Francesca Fava, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
Journal of Clinical Immunology|September 23, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and HypogammaglobulinemiaFrancesco Saettini, Fabiola Guerra, Mario Mauri, et al.
Science Immunology|August 20, 2021
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19Takaki Asano, Bertrand Boisson, Fanny Onodi, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Genome Medicine|April 5, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Pageof 2