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Sandra Monfort

Showing results (1-10 of 36) with videos related to

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The Journal of Laboratory and Clinical Medicine|June 6, 2006
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangementsSandra Monfort, Carmen Orellana, Silvestre Oltra, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2014
Phenotype profiling of patients with intellectual disability and copy number variationsMónica Roselló, Francisco Martínez, Sandra Monfort, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX geneFrancisco Martínez, Mónica Roselló, Sonia Mayo, et al.
Journal of Assisted Reproduction and Genetics|April 6, 2006
A subtelomeric translocation apparently implied in multiple abortionsSandra Monfort, Francisco Martínez, Mónica Roselló, et al.
American Journal of Medical Genetics. Part A|April 11, 2015
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndromeCarmen Orellana, Mónica Roselló, Sandra Monfort, et al.
Biomed Research International|June 25, 2015
In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsSonia Mayo, Sandra Monfort, Mónica Roselló, et al.
Scientific Reports|March 25, 2021
Prevalence of pathogenic copy number variants among children conceived by donor oocyteSandra Monfort, Carmen Orellana, Silvestre Oltra, et al.
Genetic Testing|October 6, 2006
Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromesFrancisco Martínez, Ana María León, Sandra Monfort, et al.
Medicina Clinica|March 31, 2007
[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients]Mónica Roselló, Sandra Monfort, Carmen Orellana, et al.
Frontiers in Neurology|December 17, 2021
Case Report: Novel Homozygous Likely Pathogenic <i>SCN1A</i> Variant With Autosomal Recessive Inheritance and Review of the LiteratureAna Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
The Journal of Laboratory and Clinical Medicine|June 6, 2006
Evaluation of MLPA for the detection of cryptic subtelomeric rearrangementsSandra Monfort, Carmen Orellana, Silvestre Oltra, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2014
Phenotype profiling of patients with intellectual disability and copy number variationsMónica Roselló, Francisco Martínez, Sandra Monfort, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX geneFrancisco Martínez, Mónica Roselló, Sonia Mayo, et al.
Journal of Assisted Reproduction and Genetics|April 6, 2006
A subtelomeric translocation apparently implied in multiple abortionsSandra Monfort, Francisco Martínez, Mónica Roselló, et al.
American Journal of Medical Genetics. Part A|April 11, 2015
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndromeCarmen Orellana, Mónica Roselló, Sandra Monfort, et al.
Biomed Research International|June 25, 2015
In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder PatientsSonia Mayo, Sandra Monfort, Mónica Roselló, et al.
Scientific Reports|March 25, 2021
Prevalence of pathogenic copy number variants among children conceived by donor oocyteSandra Monfort, Carmen Orellana, Silvestre Oltra, et al.
Genetic Testing|October 6, 2006
Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromesFrancisco Martínez, Ana María León, Sandra Monfort, et al.
Medicina Clinica|March 31, 2007
[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients]Mónica Roselló, Sandra Monfort, Carmen Orellana, et al.
Frontiers in Neurology|December 17, 2021
Case Report: Novel Homozygous Likely Pathogenic <i>SCN1A</i> Variant With Autosomal Recessive Inheritance and Review of the LiteratureAna Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, et al.
Pageof 4