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EJIFCC
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January 6, 2023
Anti-HMGCR Myopathy without Exposure to Statins: A Case Report
Jorge Ferriz Vivancos, Marta Fandos Sánchez, Pilar Teresa Timoneda Timoneda, et al.
Advances in Laboratory Medicine
|
December 23, 2024
Ana Comes-Raga, Luis Sendra, Goitzane Marcaida-Benito, et al.
EJIFCC
|
July 17, 2023
Utility of anti-GM-CSF antibodies in the diagnosis of pulmonary alveolar proteinosis: a case report
Antonio Sierra-Rivera, Jorge Ferriz-Vivancos, Marta Fandos-Sánchez, et al.
Advances in Laboratory Medicine
|
June 26, 2023
Blue-green neutrophilic inclusion bodies with concurrent liver failure as a predictor of imminent death
Antonio Sierra Rivera, María García Valdelvira, María A Elia Martínez, et al.
Advances in Laboratory Medicine
|
December 23, 2024
Pharmacogenetics of colorectal cancer in a third-level hospital in Valencia
Ana Comes-Raga, Luis Sendra Gisbert, Goitzane Marcaida-Benito, et al.
The Journal of Gene Medicine
|
April 8, 2017
Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population
David Albuquerque, Licínio Manco, Luz M González, et al.
EJIFCC
|
May 1, 2023
A Clinical Laboratory Study of a Non-Classical Case of Celiac Disease: How to Anticipate the Diagnosis
Ana Comes Raga, Irene Millá Tamarit, Marta Fandos Sánchez, et al.
Gene
|
April 15, 2019
Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals
Fátima Gimeno-Ferrer, David Albuquerque, Amor García Banacloy, et al.
Journal of Human Genetics
|
December 7, 2018
The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability
Fátima Gimeno-Ferrer, David Albuquerque, Carola Guzmán Luján, et al.
BMC Genetics
|
February 11, 2016
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene
Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
EJIFCC
|
January 6, 2023
Anti-HMGCR Myopathy without Exposure to Statins: A Case Report
Jorge Ferriz Vivancos, Marta Fandos Sánchez, Pilar Teresa Timoneda Timoneda, et al.
Advances in Laboratory Medicine
|
December 23, 2024
Ana Comes-Raga, Luis Sendra, Goitzane Marcaida-Benito, et al.
EJIFCC
|
July 17, 2023
Utility of anti-GM-CSF antibodies in the diagnosis of pulmonary alveolar proteinosis: a case report
Antonio Sierra-Rivera, Jorge Ferriz-Vivancos, Marta Fandos-Sánchez, et al.
Advances in Laboratory Medicine
|
June 26, 2023
Blue-green neutrophilic inclusion bodies with concurrent liver failure as a predictor of imminent death
Antonio Sierra Rivera, María García Valdelvira, María A Elia Martínez, et al.
Advances in Laboratory Medicine
|
December 23, 2024
Pharmacogenetics of colorectal cancer in a third-level hospital in Valencia
Ana Comes-Raga, Luis Sendra Gisbert, Goitzane Marcaida-Benito, et al.
The Journal of Gene Medicine
|
April 8, 2017
Polymorphisms in the SNRPN gene are associated with obesity susceptibility in a Spanish population
David Albuquerque, Licínio Manco, Luz M González, et al.
EJIFCC
|
May 1, 2023
A Clinical Laboratory Study of a Non-Classical Case of Celiac Disease: How to Anticipate the Diagnosis
Ana Comes Raga, Irene Millá Tamarit, Marta Fandos Sánchez, et al.
Gene
|
April 15, 2019
Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals
Fátima Gimeno-Ferrer, David Albuquerque, Amor García Banacloy, et al.
Journal of Human Genetics
|
December 7, 2018
The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability
Fátima Gimeno-Ferrer, David Albuquerque, Carola Guzmán Luján, et al.
BMC Genetics
|
February 11, 2016
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene
Katalin Farkas, Barbara Kocsis Deák, Laura Cubells Sánchez, et al.
Page
of 2