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Sabina Domené

Showing results (1-10 of 18) with videos related to

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Pediatric Endocrinology Reviews : PER|November 1, 2018
Genetic Mutations in the GH/IGF AxisSabina Domené, Horacio M Domené
Molecular and Cellular Endocrinology|August 31, 2020
The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I actionSabina Domené, Horacio M Domené
Cells|August 27, 2021
Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and DevelopmentSabina Domené, Paula A Scaglia, Mariana L Gutiérrez, et al.
American Journal of Human Genetics|August 2, 2011
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptorsGyu-Un Bae, Sabina Domené, Erich Roessler, et al.
Endocrine|October 26, 2010
Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control studyViviana Varela, Leonardo Rizzo, Sabina Domené, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
A novel SIX3 mutation segregates with holoprosencephaly in a large familyBenjamin D Solomon, Felicitas Lacbawan, Mahim Jain, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|November 13, 2013
Enhancer turnover and conserved regulatory function in vertebrate evolutionSabina Domené, Viviana F Bumaschny, Flávio S J de Souza, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 25, 2010
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibilitySabina Domené, Horia Stanescu, Deeann Wallis, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2004
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesisViviana J Gutnisky, Christian M Moya, Carina M Rivolta, et al.
Human Mutation|August 26, 2003
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCarina M Rivolta, Sebastián A Esperante, Laura Gruñeiro-Papendieck, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Pediatric Endocrinology Reviews : PER|November 1, 2018
Genetic Mutations in the GH/IGF AxisSabina Domené, Horacio M Domené
Molecular and Cellular Endocrinology|August 31, 2020
The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I actionSabina Domené, Horacio M Domené
Cells|August 27, 2021
Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and DevelopmentSabina Domené, Paula A Scaglia, Mariana L Gutiérrez, et al.
American Journal of Human Genetics|August 2, 2011
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptorsGyu-Un Bae, Sabina Domené, Erich Roessler, et al.
Endocrine|October 26, 2010
Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control studyViviana Varela, Leonardo Rizzo, Sabina Domené, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
A novel SIX3 mutation segregates with holoprosencephaly in a large familyBenjamin D Solomon, Felicitas Lacbawan, Mahim Jain, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|November 13, 2013
Enhancer turnover and conserved regulatory function in vertebrate evolutionSabina Domené, Viviana F Bumaschny, Flávio S J de Souza, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 25, 2010
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibilitySabina Domené, Horia Stanescu, Deeann Wallis, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2004
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesisViviana J Gutnisky, Christian M Moya, Carina M Rivolta, et al.
Human Mutation|August 26, 2003
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCarina M Rivolta, Sebastián A Esperante, Laura Gruñeiro-Papendieck, et al.
Pageof 2