Search research articles
Contact Us
Filters
Showing results (31-40 of 86) with videos related to
Page
of 9
Sort By:
Human Genetics
|
August 20, 2016
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
Mario Lucariello, Enrique Vidal, Silvia Vidal, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 6, 2011
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
Aida Ormazabal, Mercedes Serrano, Angels Garcia-Cazorla, et al.
Genes
|
May 27, 2026
DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations
Sara Hadj Sadok, Alicia Irene Serra, Leticia Diana Pias-Peleteiro, et al.
Human Genetics
|
November 19, 2004
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients
Esteban Ballestar, Santiago Ropero, Miguel Alaminos, et al.
Clinical Genetics
|
February 22, 2022
The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome
Loreto Martorell, Delia Yubero, Esther Cuatrecasas Capdevila, et al.
Scientific Reports
|
September 8, 2021
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Silvia Vidal, Núria Brandi, Paola Pacheco, et al.
Scientific Reports
|
September 27, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Silvia Vidal, Núria Brandi, Paola Pacheco, et al.
Neuromuscular Disorders : NMD
|
April 10, 2007
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
Montse Olivé, Judith Armstrong, Francesc Miralles, et al.
Gene
|
March 15, 2006
The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients
Floriana Della Ragione, Anna Tiunova, Marcella Vacca, et al.
International Journal of Molecular Sciences
|
January 21, 2023
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects
Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, et al.
Page
of 9
Search research articles
Search
Showing results (31-40 of 86) with videos related to
Sort By:
Page
of 9
Human Genetics
|
August 20, 2016
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
Mario Lucariello, Enrique Vidal, Silvia Vidal, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 6, 2011
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
Aida Ormazabal, Mercedes Serrano, Angels Garcia-Cazorla, et al.
Genes
|
May 27, 2026
DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations
Sara Hadj Sadok, Alicia Irene Serra, Leticia Diana Pias-Peleteiro, et al.
Human Genetics
|
November 19, 2004
The impact of MECP2 mutations in the expression patterns of Rett syndrome patients
Esteban Ballestar, Santiago Ropero, Miguel Alaminos, et al.
Clinical Genetics
|
February 22, 2022
The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome
Loreto Martorell, Delia Yubero, Esther Cuatrecasas Capdevila, et al.
Scientific Reports
|
September 8, 2021
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Silvia Vidal, Núria Brandi, Paola Pacheco, et al.
Scientific Reports
|
September 27, 2017
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Silvia Vidal, Núria Brandi, Paola Pacheco, et al.
Neuromuscular Disorders : NMD
|
April 10, 2007
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
Montse Olivé, Judith Armstrong, Francesc Miralles, et al.
Gene
|
March 15, 2006
The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients
Floriana Della Ragione, Anna Tiunova, Marcella Vacca, et al.
International Journal of Molecular Sciences
|
January 21, 2023
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects
Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, et al.
Page
of 9