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International Journal of Molecular Sciences
|
March 13, 2024
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient
Laura Arribas-Carreira, Margarita Castro, Fernando García, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 26, 2016
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Ana I Vega, Celia Medrano, Rosa Navarrete, et al.
Human Mutation
|
December 9, 2010
Defining the pathogenicity of creatine deficiency syndrome
Patricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, et al.
European Journal of Human Genetics : EJHG
|
August 15, 2013
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing
Daniel Trujillano, Belén Perez, Justo González, et al.
Plos One
|
January 24, 2013
Glytube: a conical tube and parafilm M-based method as a simplified device to artificially blood-feed the dengue vector mosquito, Aedes aegypti
André Luis Costa-da-Silva, Flávia Rosa Navarrete, Felipe Scassi Salvador, et al.
Medicina Clinica
|
July 15, 2011
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]
María Luz Couce, Celia Pérez-Cerdá, María Teresa García Silva, et al.
Stem Cell Research
|
May 28, 2019
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, et al.
Stem Cell Research
|
August 1, 2019
Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469]
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, et al.
International Journal of Molecular Sciences
|
November 11, 2022
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, et al.
Journal of Human Genetics
|
December 2, 2016
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, et al.
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Search research articles
Search
Showing results (11-20 of 31) with videos related to
Sort By:
Page
of 4
International Journal of Molecular Sciences
|
March 13, 2024
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient
Laura Arribas-Carreira, Margarita Castro, Fernando García, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 26, 2016
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Ana I Vega, Celia Medrano, Rosa Navarrete, et al.
Human Mutation
|
December 9, 2010
Defining the pathogenicity of creatine deficiency syndrome
Patricia Alcaide, Begoña Merinero, Pedro Ruiz-Sala, et al.
European Journal of Human Genetics : EJHG
|
August 15, 2013
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing
Daniel Trujillano, Belén Perez, Justo González, et al.
Plos One
|
January 24, 2013
Glytube: a conical tube and parafilm M-based method as a simplified device to artificially blood-feed the dengue vector mosquito, Aedes aegypti
André Luis Costa-da-Silva, Flávia Rosa Navarrete, Felipe Scassi Salvador, et al.
Medicina Clinica
|
July 15, 2011
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]
María Luz Couce, Celia Pérez-Cerdá, María Teresa García Silva, et al.
Stem Cell Research
|
May 28, 2019
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, et al.
Stem Cell Research
|
August 1, 2019
Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469]
Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, et al.
International Journal of Molecular Sciences
|
November 11, 2022
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
Alejandro Soriano-Sexto, Diana Gallego, Fátima Leal, et al.
Journal of Human Genetics
|
December 2, 2016
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, et al.
Page
of 4