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E Heath

Showing results (341-350 of 431) with videos related to

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Journal of Human Genetics|September 9, 2016
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot regionSara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, et al.
Journal of Neuro-Oncology|February 18, 2018
Differential expression of the TWEAK receptor Fn14 in IDH1 wild-type and mutant gliomasDavid S Hersh, Sen Peng, Jimena G Dancy, et al.
Talanta|May 6, 2010
Second interlaboratory exercise on non-steroidal anti-inflammatory drug analysis in environmental aqueous samplesE Heath, T Kosjek, M Farre, et al.
Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.
Human Molecular Genetics|January 26, 2011
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancerMiriam Aza-Carmona, Debbie J Shears, Patricia Yuste-Checa, et al.
American Journal of Medical Genetics. Part A|May 24, 2019
Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiencyFrancisco J Rodríguez-Contreras, Mercedes Marbán-Calzón, Elena Vallespín, et al.
Clinical Genetics|November 14, 2024
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver AbnormalitiesNatalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, et al.
Journal of Pediatric Hematology/Oncology|December 11, 2014
Prasugrel in children with sickle cell disease: pharmacokinetic and pharmacodynamic data from an open-label, adaptive-design, dose-ranging studyLori Styles, Darell Heiselman, Lori E Heath, et al.
Anales De Pediatria|November 8, 2022
Achondroplasia: Update on diagnosis, follow-up and treatmentAntonio Leiva-Gea, María F Martos Lirio, Ana Coral Barreda Bonis, et al.
Journal of Clinical Medicine|November 21, 2019
Geographic Differences in Phenotype and Treatment of Children with Sickle Cell Anemia from the Multinational DOVE StudyBaba Psalm Duniya Inusa, Raffaella Colombatti, David C Rees, et al.
Pageof 44

Showing results (341-350 of 431) with videos related to

Sort By:
Pageof 44
Journal of Human Genetics|September 9, 2016
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot regionSara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, et al.
Journal of Neuro-Oncology|February 18, 2018
Differential expression of the TWEAK receptor Fn14 in IDH1 wild-type and mutant gliomasDavid S Hersh, Sen Peng, Jimena G Dancy, et al.
Talanta|May 6, 2010
Second interlaboratory exercise on non-steroidal anti-inflammatory drug analysis in environmental aqueous samplesE Heath, T Kosjek, M Farre, et al.
Human Mutation|July 22, 2017
FGF9 mutation causes craniosynostosis along with multiple synostosesMaria Rodriguez-Zabala, Miriam Aza-Carmona, Carlos I Rivera-Pedroza, et al.
Human Molecular Genetics|January 26, 2011
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancerMiriam Aza-Carmona, Debbie J Shears, Patricia Yuste-Checa, et al.
American Journal of Medical Genetics. Part A|May 24, 2019
Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiencyFrancisco J Rodríguez-Contreras, Mercedes Marbán-Calzón, Elena Vallespín, et al.
Clinical Genetics|November 14, 2024
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver AbnormalitiesNatalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra, et al.
Journal of Pediatric Hematology/Oncology|December 11, 2014
Prasugrel in children with sickle cell disease: pharmacokinetic and pharmacodynamic data from an open-label, adaptive-design, dose-ranging studyLori Styles, Darell Heiselman, Lori E Heath, et al.
Anales De Pediatria|November 8, 2022
Achondroplasia: Update on diagnosis, follow-up and treatmentAntonio Leiva-Gea, María F Martos Lirio, Ana Coral Barreda Bonis, et al.
Journal of Clinical Medicine|November 21, 2019
Geographic Differences in Phenotype and Treatment of Children with Sickle Cell Anemia from the Multinational DOVE StudyBaba Psalm Duniya Inusa, Raffaella Colombatti, David C Rees, et al.
Pageof 44