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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 18, 2011
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literatureEva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 18, 2011
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literatureEva Bermejo-Sánchez, Lourdes Cuevas, Emmanuelle Amar, et al.American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.Current Opinion in Chemical Biology|August 5, 2018
A new era for electron bifurcationJohn W Peters, David N Beratan, Brian Bothner, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 18, 2011
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature reviewIêda M Orioli, Emmanuelle Amar, Jazmin Arteaga-Vazquez, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 18, 2011
Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and ResearchLorenzo D Botto, Marcia L Feldkamp, Emmanuelle Amar, et al.Journal for Immunotherapy of Cancer|October 28, 2021
Real-world performance of blood-based proteomic profiling in first-line immunotherapy treatment in advanced stage non-small cell lung cancerPatricia Rich, R Brian Mitchell, Eric Schaefer, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 18, 2011
Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literatureCsaba Siffel, Adolfo Correa, Emmanuelle Amar, et al.American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.Pageof 49