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Sandra Monfort

Showing results (11-20 of 36) with videos related to

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Pediatric Research|August 9, 2016
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Alfonso Caro-Llopis, Monica Rosello, Carmen Orellana, et al.
Journal of Medical Genetics|September 14, 2016
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencingFrancisco Martínez, Alfonso Caro-Llopis, Mónica Roselló, et al.
Medicina Clinica|June 25, 2013
[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence]Amparo López-Carrasco, Sandra Monfort, Mónica Roselló, et al.
International Journal of Genomics|June 21, 2017
Chimeric Genes in Deletions and Duplications Associated with Intellectual DisabilitySonia Mayo, Sandra Monfort, Mónica Roselló, et al.
BMC Medical Genomics|November 25, 2010
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomaliesFrancisco Martínez, Sandra Monfort, Mónica Roselló, et al.
Genes|October 26, 2024
Triplication of the <i>PCDH19</i> Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic VariantsAlba Gabaldón-Albero, Patricia Smeyers, Sara Hernández-Muela, et al.
American Journal of Medical Genetics. Part A|November 5, 2004
Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque familyFrancisco Martínez, Isabel Martínez-Garay, Silvestre Oltra, et al.
BMJ Case Reports|June 21, 2011
Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrumC Orellana, Jordi Bernabeu, Sandra Monfort, et al.
Journal of Inherited Metabolic Disease|December 25, 2009
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15Irene Ferrer-Bolufer, Jaime Dalmau, Ramiro Quiroga, et al.
European Journal of Medical Genetics|December 17, 2009
Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimesterMónica Roselló, Irene Ferrer-Bolufer, Sandra Monfort, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
Pediatric Research|August 9, 2016
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?Alfonso Caro-Llopis, Monica Rosello, Carmen Orellana, et al.
Journal of Medical Genetics|September 14, 2016
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencingFrancisco Martínez, Alfonso Caro-Llopis, Mónica Roselló, et al.
Medicina Clinica|June 25, 2013
[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence]Amparo López-Carrasco, Sandra Monfort, Mónica Roselló, et al.
International Journal of Genomics|June 21, 2017
Chimeric Genes in Deletions and Duplications Associated with Intellectual DisabilitySonia Mayo, Sandra Monfort, Mónica Roselló, et al.
BMC Medical Genomics|November 25, 2010
Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomaliesFrancisco Martínez, Sandra Monfort, Mónica Roselló, et al.
Genes|October 26, 2024
Triplication of the <i>PCDH19</i> Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic VariantsAlba Gabaldón-Albero, Patricia Smeyers, Sara Hernández-Muela, et al.
American Journal of Medical Genetics. Part A|November 5, 2004
Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque familyFrancisco Martínez, Isabel Martínez-Garay, Silvestre Oltra, et al.
BMJ Case Reports|June 21, 2011
Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrumC Orellana, Jordi Bernabeu, Sandra Monfort, et al.
Journal of Inherited Metabolic Disease|December 25, 2009
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15Irene Ferrer-Bolufer, Jaime Dalmau, Ramiro Quiroga, et al.
European Journal of Medical Genetics|December 17, 2009
Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimesterMónica Roselló, Irene Ferrer-Bolufer, Sandra Monfort, et al.
Pageof 4