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Scientific Reports
|
July 1, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Frontiers in Genetics
|
October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndrome
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, et al.
Behavioral Sciences (Basel, Switzerland)
|
February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives
Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
The International Journal of Cardiovascular Imaging
|
November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
European Journal of Medical Genetics
|
June 12, 2013
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
Mónica Ramos, Sebastián Menao, María Arnedo, et al.
Genes
|
August 26, 2022
A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange Syndrome
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, et al.
Molecular Biology Reports
|
September 29, 2011
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway
Beatriz Puisac, Mónica Ramos, María Arnedo, et al.
American Journal of Human Genetics
|
February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
Matthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
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Search research articles
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Showing results (11-20 of 24) with videos related to
Sort By:
Page
of 3
Scientific Reports
|
July 1, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, et al.
Frontiers in Genetics
|
October 17, 2022
Case report: A novel case of parental mosaicism in <i>SMC1A</i> gene causes inherited Cornelia de Lange syndrome
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, et al.
International Journal of Molecular Sciences
|
September 9, 2022
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, et al.
Behavioral Sciences (Basel, Switzerland)
|
February 27, 2026
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers' and Fathers' Perspectives
Julia Del Rincón, Laura Trujillano, Cristina Lucia-Campos, et al.
The International Journal of Cardiovascular Imaging
|
November 26, 2022
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, et al.
Journal of Clinical Research in Pediatric Endocrinology
|
December 9, 2022
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, et al.
European Journal of Medical Genetics
|
June 12, 2013
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
Mónica Ramos, Sebastián Menao, María Arnedo, et al.
Genes
|
August 26, 2022
A Novel Intragenic Duplication in the <i>HDAC8</i> Gene Underlying a Case of Cornelia de Lange Syndrome
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, et al.
Molecular Biology Reports
|
September 29, 2011
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway
Beatriz Puisac, Mónica Ramos, María Arnedo, et al.
American Journal of Human Genetics
|
February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
Matthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
Page
of 3