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E Heath

Showing results (261-270 of 431) with videos related to

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Contemporary Clinical Trials|June 24, 2019
Effect of gamma aminobutyric acid (GABA) or GABA with glutamic acid decarboxylase (GAD) on the progression of type 1 diabetes mellitus in children: Trial design and methodologyHeather M Choat, Alexandra Martin, Gail J Mick, et al.
Journal of Pediatric Genetics|August 1, 2024
Novel <i>FLNB</i> Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis SyndromeR Ramos-Mejía, M Del Pino, M Aza-Carmona, et al.
American Journal of Medical Genetics. Part A|November 1, 2011
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334ThrEva Barroso, Virginia Pérez-Carrizosa, Ignacio García-Recuero, et al.
European Journal of Medical Genetics|April 24, 2010
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD)Eva Barroso, Sara Benito-Sanz, Alberta Belinchón, et al.
FEMS Microbiology Letters|July 15, 2004
The streptococcolytic enzyme zoocin A is a penicillin-binding proteinLucie S Heath, Harry E Heath, Paul A LeBlanc, et al.
American Journal of Medical Genetics. Part A|August 29, 2020
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathyAndré M Travessa, Francisca Díaz-González, Teresa Mirco, et al.
European Journal of Medical Genetics|June 11, 2016
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patientJimena Barraza-García, Carlos I Rivera-Pedroza, Alberta Belinchón, et al.
European Journal of Medical Genetics|July 9, 2013
Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletionArzu Akcay, Korkut Ulucan, Necati Taskin, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|February 16, 2026
External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohortC Tornero, V Navarro-Compán, K E Heath, et al.
European Journal of Human Genetics : EJHG|November 11, 2011
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short statureSara Benito-Sanz, Miriam Aza-Carmona, Amaya Rodríguez-Estevez, et al.
Pageof 44

Showing results (261-270 of 431) with videos related to

Sort By:
Pageof 44
Contemporary Clinical Trials|June 24, 2019
Effect of gamma aminobutyric acid (GABA) or GABA with glutamic acid decarboxylase (GAD) on the progression of type 1 diabetes mellitus in children: Trial design and methodologyHeather M Choat, Alexandra Martin, Gail J Mick, et al.
Journal of Pediatric Genetics|August 1, 2024
Novel <i>FLNB</i> Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis SyndromeR Ramos-Mejía, M Del Pino, M Aza-Carmona, et al.
American Journal of Medical Genetics. Part A|November 1, 2011
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334ThrEva Barroso, Virginia Pérez-Carrizosa, Ignacio García-Recuero, et al.
European Journal of Medical Genetics|April 24, 2010
Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD)Eva Barroso, Sara Benito-Sanz, Alberta Belinchón, et al.
FEMS Microbiology Letters|July 15, 2004
The streptococcolytic enzyme zoocin A is a penicillin-binding proteinLucie S Heath, Harry E Heath, Paul A LeBlanc, et al.
American Journal of Medical Genetics. Part A|August 29, 2020
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathyAndré M Travessa, Francisca Díaz-González, Teresa Mirco, et al.
European Journal of Medical Genetics|June 11, 2016
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patientJimena Barraza-García, Carlos I Rivera-Pedroza, Alberta Belinchón, et al.
European Journal of Medical Genetics|July 9, 2013
Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletionArzu Akcay, Korkut Ulucan, Necati Taskin, et al.
Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|February 16, 2026
External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohortC Tornero, V Navarro-Compán, K E Heath, et al.
European Journal of Human Genetics : EJHG|November 11, 2011
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short statureSara Benito-Sanz, Miriam Aza-Carmona, Amaya Rodríguez-Estevez, et al.
Pageof 44