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Sandra Monfort

Showing results (21-30 of 36) with videos related to

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Journal of Child Neurology|January 24, 2022
Extending the Phenotype Related to <i>SCN1A</i> Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical DevelopmentAna Victoria Marco-Hernández, Alfonso Caro-Llopis, Pilar Rubio Sánchez, et al.
Pediatric Research|July 23, 2015
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypesFrancisco Martinez, Purificación Marín-Reina, Amparo Sanchis-Calvo, et al.
American Journal of Medical Genetics. Part A|February 13, 2009
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertionsCristina Camprubí, Miriam Guitart, Elisabeth Gabau, et al.
American Journal of Medical Genetics. Part A|September 30, 2021
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disabilityAna Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|July 7, 2025
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective studyMarta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, et al.
Pediatric Research|November 12, 2020
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencingMonica Rosello, Alfonso Caro-Llopis, Carmen Orellana, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndromeEgle Preiksaitiene, Alfonso Caro, Eglė Benušienė, et al.
Experimental Dermatology|March 24, 2011
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndromeFrank Oeffner, Francisco Martinez, Julie Schaffer, et al.
Clinical Genetics|November 29, 2021
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT geneAna Victoria Marco-Hernández, Miguel Tomás-Vila, Alejandro Montoya-Filardi, et al.
Genes|June 27, 2024
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel <i>PIGA</i> Variant Not Associated with a Skewed X-Inactivation PatternAlba Gabaldon-Albero, Lourdes Cordon, Amparo Sempere, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Journal of Child Neurology|January 24, 2022
Extending the Phenotype Related to <i>SCN1A</i> Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical DevelopmentAna Victoria Marco-Hernández, Alfonso Caro-Llopis, Pilar Rubio Sánchez, et al.
Pediatric Research|July 23, 2015
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypesFrancisco Martinez, Purificación Marín-Reina, Amparo Sanchis-Calvo, et al.
American Journal of Medical Genetics. Part A|February 13, 2009
Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertionsCristina Camprubí, Miriam Guitart, Elisabeth Gabau, et al.
American Journal of Medical Genetics. Part A|September 30, 2021
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disabilityAna Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|July 7, 2025
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective studyMarta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau, et al.
Pediatric Research|November 12, 2020
Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencingMonica Rosello, Alfonso Caro-Llopis, Carmen Orellana, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndromeEgle Preiksaitiene, Alfonso Caro, Eglė Benušienė, et al.
Experimental Dermatology|March 24, 2011
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndromeFrank Oeffner, Francisco Martinez, Julie Schaffer, et al.
Clinical Genetics|November 29, 2021
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT geneAna Victoria Marco-Hernández, Miguel Tomás-Vila, Alejandro Montoya-Filardi, et al.
Genes|June 27, 2024
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel <i>PIGA</i> Variant Not Associated with a Skewed X-Inactivation PatternAlba Gabaldon-Albero, Lourdes Cordon, Amparo Sempere, et al.
Pageof 4