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Elise Schaefer

Showing results (1-10 of 102) with videos related to

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Biotechnology and Bioengineering|November 14, 2017
Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzymeLong Chen, Megan Holmes, Elise Schaefer, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|March 2, 2020
Dental and maxillofacial features of Noonan Syndrome: Case series of ten patientsJean-Christophe Lutz, Romain Nicot, Matthias Schlund, et al.
European Journal of Medical Genetics|March 8, 2014
Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 geneElise Schaefer, Pauline Helms, Luc Marcellin, et al.
Clinical Genetics|July 13, 2022
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromesBenjamin Durand, Elise Schaefer, Pauline Burger, et al.
Hormone Research in Paediatrics|January 26, 2025
Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access ProgramValérie Cormier-Daire, Thomas Edouard, Bertrand Isidor, et al.
Frontiers in Genetics|February 15, 2019
Identification and Characterization of Known Biallelic Mutations in the <i>IFT27</i> (<i>BBS19</i>) Gene in a Novel Family With Bardet-Biedl SyndromeElise Schaefer, Clarisse Delvallée, Laura Mary, et al.
Forensic Science International. Genetics|October 22, 2025
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaborationJulien Osouf, Audrey Schalk, Elise Schaefer, et al.
Ophthalmic Genetics|March 27, 2014
MSX2 Gene Duplication in a Patient with Eye Development DefectsJulie Plaisancié, Corinne Collet, Valerie Pelletier, et al.
Journal of Human Genetics|January 15, 2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndromeElise Schaefer, Corinne Stoetzel, Sophie Scheidecker, et al.
Neuropediatrics|January 28, 2021
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) DeficiencyMarie-Aude Spitz, Guy Lenaers, Majida Charif, et al.
Pageof 11

Showing results (1-10 of 102) with videos related to

Sort By:
Pageof 11
Biotechnology and Bioengineering|November 14, 2017
Highly active spore biocatalyst by self-assembly of co-expressed anchoring scaffoldin and multimeric enzymeLong Chen, Megan Holmes, Elise Schaefer, et al.
Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery|March 2, 2020
Dental and maxillofacial features of Noonan Syndrome: Case series of ten patientsJean-Christophe Lutz, Romain Nicot, Matthias Schlund, et al.
European Journal of Medical Genetics|March 8, 2014
Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 geneElise Schaefer, Pauline Helms, Luc Marcellin, et al.
Clinical Genetics|July 13, 2022
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromesBenjamin Durand, Elise Schaefer, Pauline Burger, et al.
Hormone Research in Paediatrics|January 26, 2025
Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access ProgramValérie Cormier-Daire, Thomas Edouard, Bertrand Isidor, et al.
Frontiers in Genetics|February 15, 2019
Identification and Characterization of Known Biallelic Mutations in the <i>IFT27</i> (<i>BBS19</i>) Gene in a Novel Family With Bardet-Biedl SyndromeElise Schaefer, Clarisse Delvallée, Laura Mary, et al.
Forensic Science International. Genetics|October 22, 2025
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaborationJulien Osouf, Audrey Schalk, Elise Schaefer, et al.
Ophthalmic Genetics|March 27, 2014
MSX2 Gene Duplication in a Patient with Eye Development DefectsJulie Plaisancié, Corinne Collet, Valerie Pelletier, et al.
Journal of Human Genetics|January 15, 2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndromeElise Schaefer, Corinne Stoetzel, Sophie Scheidecker, et al.
Neuropediatrics|January 28, 2021
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) DeficiencyMarie-Aude Spitz, Guy Lenaers, Majida Charif, et al.
Pageof 11