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Clinical Genetics
|
January 21, 2022
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Juan Luque, Ingrid Mendes, Beatriz Gómez, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2026
A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review
Tomás Valle, Alejandra Damián, Marta Torres, et al.
Frontiers in Genetics
|
November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Oncotarget
|
March 20, 2015
Nuclear DICKKOPF-1 as a biomarker of chemoresistance and poor clinical outcome in colorectal cancer
Óscar Aguilera, José Manuel González-Sancho, Sandra Zazo, et al.
Nucleic Acids Research
|
September 29, 2020
CSVS, a crowdsourcing database of the Spanish population genetic variability
María Peña-Chilet, Gema Roldán, Javier Perez-Florido, et al.
Genes
|
June 2, 2021
Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a Review
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, et al.
Nature Genetics
|
April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
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Search research articles
Search
Showing results (41-50 of 47) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 47 results.
Clinical Genetics
|
January 21, 2022
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Juan Luque, Ingrid Mendes, Beatriz Gómez, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2026
A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review
Tomás Valle, Alejandra Damián, Marta Torres, et al.
Frontiers in Genetics
|
November 18, 2024
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, et al.
Oncotarget
|
March 20, 2015
Nuclear DICKKOPF-1 as a biomarker of chemoresistance and poor clinical outcome in colorectal cancer
Óscar Aguilera, José Manuel González-Sancho, Sandra Zazo, et al.
Nucleic Acids Research
|
September 29, 2020
CSVS, a crowdsourcing database of the Spanish population genetic variability
María Peña-Chilet, Gema Roldán, Javier Perez-Florido, et al.
Genes
|
June 2, 2021
Schuurs-Hoeijmakers Syndrome (<i>PACS1</i> Neurodevelopmental Disorder): Seven Novel Patients and a Review
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, et al.
Nature Genetics
|
April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
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of 5