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Orphanet Journal of Rare Diseases
|
November 5, 2016
Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, et al.
Orphanet Journal of Rare Diseases
|
December 31, 2015
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, et al.
International Journal of Genomics
|
May 4, 2019
Analysis of the Phenotypes in the Rett Networked Database
Elisa Frullanti, Filomena T Papa, Elisa Grillo, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Clinical Genetics
|
February 12, 2020
Molecular characterization of Spanish patients with MECP2 duplication syndrome
Ainhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, et al.
Nature Communications
|
July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Vincenzo Salpietro, Christine L Dixon, Hui Guo, et al.
Page
of 9
Search research articles
Search
Showing results (81-90 of 86) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 86 results.
Orphanet Journal of Rare Diseases
|
November 5, 2016
Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, et al.
Orphanet Journal of Rare Diseases
|
December 31, 2015
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, et al.
International Journal of Genomics
|
May 4, 2019
Analysis of the Phenotypes in the Rett Networked Database
Elisa Frullanti, Filomena T Papa, Elisa Grillo, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Clinical Genetics
|
February 12, 2020
Molecular characterization of Spanish patients with MECP2 duplication syndrome
Ainhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, et al.
Nature Communications
|
July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Vincenzo Salpietro, Christine L Dixon, Hui Guo, et al.
Page
of 9