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European Journal of Human Genetics : EJHG
|
October 27, 2022
Somatic genetic variation in healthy tissue and non-cancer diseases
Manuel Solís-Moruno, Laura Batlle-Masó, Núria Bonet, et al.
European Journal of Medical Genetics
|
March 31, 2020
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
Laura Batlle-Masó, Anna Mensa-Vilaró, Manuel Solís-Moruno, et al.
Frontiers in Immunology
|
March 27, 2026
Transmission of F12-related hereditary angioedema through a sperm donor
Lluís Marquès, Laura Batlle-Masó, Eva Alcoceba, et al.
Scientific Reports
|
June 22, 2021
Assessment of the gene mosaicism burden in blood and its implications for immune disorders
Manuel Solís-Moruno, Anna Mensa-Vilaró, Laura Batlle-Masó, et al.
Frontiers in Immunology
|
February 21, 2025
<i>De Novo</i> or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency
Laura Batlle-Masó, Janire Perurena-Prieto, Laura Viñas-Giménez, et al.
Frontiers in Immunology
|
February 21, 2020
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis
Laura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, et al.
Frontiers in Immunology
|
July 5, 2022
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report
Clara Franco-Jarava, Irene Valenzuela, Jacques G Riviere, et al.
Frontiers in Genetics
|
January 31, 2020
Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual
Lukas F K Kuderna, Manuel Solís-Moruno, Laura Batlle-Masó, et al.
Journal of Clinical Immunology
|
August 19, 2023
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
Laura Batlle-Masó, Jacques G Rivière, Clara Franco-Jarava, et al.
Journal of Clinical Immunology
|
January 24, 2024
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, et al.
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Search research articles
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Showing results (1-10 of 19) with videos related to
Sort By:
Page
of 2
European Journal of Human Genetics : EJHG
|
October 27, 2022
Somatic genetic variation in healthy tissue and non-cancer diseases
Manuel Solís-Moruno, Laura Batlle-Masó, Núria Bonet, et al.
European Journal of Medical Genetics
|
March 31, 2020
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
Laura Batlle-Masó, Anna Mensa-Vilaró, Manuel Solís-Moruno, et al.
Frontiers in Immunology
|
March 27, 2026
Transmission of F12-related hereditary angioedema through a sperm donor
Lluís Marquès, Laura Batlle-Masó, Eva Alcoceba, et al.
Scientific Reports
|
June 22, 2021
Assessment of the gene mosaicism burden in blood and its implications for immune disorders
Manuel Solís-Moruno, Anna Mensa-Vilaró, Laura Batlle-Masó, et al.
Frontiers in Immunology
|
February 21, 2025
<i>De Novo</i> or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency
Laura Batlle-Masó, Janire Perurena-Prieto, Laura Viñas-Giménez, et al.
Frontiers in Immunology
|
February 21, 2020
FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis
Laura Viñas-Giménez, Natàlia Padilla, Laura Batlle-Masó, et al.
Frontiers in Immunology
|
July 5, 2022
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report
Clara Franco-Jarava, Irene Valenzuela, Jacques G Riviere, et al.
Frontiers in Genetics
|
January 31, 2020
Flow Sorting Enrichment and Nanopore Sequencing of Chromosome 1 From a Chinese Individual
Lukas F K Kuderna, Manuel Solís-Moruno, Laura Batlle-Masó, et al.
Journal of Clinical Immunology
|
August 19, 2023
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
Laura Batlle-Masó, Jacques G Rivière, Clara Franco-Jarava, et al.
Journal of Clinical Immunology
|
January 24, 2024
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, et al.
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