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Isabel Llano

Showing results (41-50 of 50) with videos related to

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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 3, 2021
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main playersAndrea Domingo-Gallego, Marc Pybus, Gemma Bullich, et al.
Kidney International|May 27, 2018
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseasesGemma Bullich, Andrea Domingo-Gallego, Iván Vargas, et al.
Genes|May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainLidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH VariantsLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.
Journal of the American College of Cardiology|November 17, 2018
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic CardiomyopathyJuan Pablo Ochoa, María Sabater-Molina, José Manuel García-Pinilla, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
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Showing results (41-50 of 50) with videos related to

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You have reached the last page of results.This site can display upto 50 results.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 3, 2021
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main playersAndrea Domingo-Gallego, Marc Pybus, Gemma Bullich, et al.
Kidney International|May 27, 2018
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseasesGemma Bullich, Andrea Domingo-Gallego, Iván Vargas, et al.
Genes|May 15, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainLidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, et al.
Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.
American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.
The Journal of Clinical Endocrinology and Metabolism|April 21, 2020
Clinical and Molecular Description of 16 Families With Heterozygous IHH VariantsLucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, et al.
Journal of Medical Genetics|November 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patientsElena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona, et al.
Journal of the American College of Cardiology|November 17, 2018
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic CardiomyopathyJuan Pablo Ochoa, María Sabater-Molina, José Manuel García-Pinilla, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
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