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Showing results (61-70 of 73) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|January 31, 2008
Mutations in NALP12 cause hereditary periodic fever syndromesI Jéru, P Duquesnoy, T Fernandes-Alnemri, et al.
Human Mutation|July 29, 2011
GLI3 is rarely implicated in OFD syndromes with midline abnormalitiesM Avila, N Gigot, B Aral, et al.
World Neurosurgery|July 15, 2022
Carole A. Miller, MD: Matriarch of the Ohio State University's Department of NeurosurgeryDaniel S Ikeda, E Antonio Chiocca, Russel R Lonser, et al.
Clinical Genetics|September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityH Blons, D Feldmann, V Duval, et al.
International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.
Clinical Genetics|December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndromeM Nizon, M Henry, C Michot, et al.
Human Molecular Genetics|October 23, 1997
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 geneF Denoyelle, D Weil, M A Maw, et al.
Journal of Medical Genetics|July 5, 2005
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentF J del Castillo, M Rodríguez-Ballesteros, A Alvarez, et al.
JAMA|February 23, 2021
Effect of Vitamin C, Thiamine, and Hydrocortisone on Ventilator- and Vasopressor-Free Days in Patients With Sepsis: The VICTAS Randomized Clinical TrialJonathan E Sevransky, Richard E Rothman, David N Hager, et al.
Neurosurgical Focus|March 31, 2021
Biographies of international women leaders in neurosurgeryStephanie M Casillo, Anisha Venkatesh, Nallammai Muthiah, et al.
Pageof 8

Showing results (61-70 of 73) with videos related to

Sort By:
Pageof 8
Proceedings of the National Academy of Sciences of the United States of America|January 31, 2008
Mutations in NALP12 cause hereditary periodic fever syndromesI Jéru, P Duquesnoy, T Fernandes-Alnemri, et al.
Human Mutation|July 29, 2011
GLI3 is rarely implicated in OFD syndromes with midline abnormalitiesM Avila, N Gigot, B Aral, et al.
World Neurosurgery|July 15, 2022
Carole A. Miller, MD: Matriarch of the Ohio State University's Department of NeurosurgeryDaniel S Ikeda, E Antonio Chiocca, Russel R Lonser, et al.
Clinical Genetics|September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityH Blons, D Feldmann, V Duval, et al.
International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.
Clinical Genetics|December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndromeM Nizon, M Henry, C Michot, et al.
Human Molecular Genetics|October 23, 1997
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 geneF Denoyelle, D Weil, M A Maw, et al.
Journal of Medical Genetics|July 5, 2005
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentF J del Castillo, M Rodríguez-Ballesteros, A Alvarez, et al.
JAMA|February 23, 2021
Effect of Vitamin C, Thiamine, and Hydrocortisone on Ventilator- and Vasopressor-Free Days in Patients With Sepsis: The VICTAS Randomized Clinical TrialJonathan E Sevransky, Richard E Rothman, David N Hager, et al.
Neurosurgical Focus|March 31, 2021
Biographies of international women leaders in neurosurgeryStephanie M Casillo, Anisha Venkatesh, Nallammai Muthiah, et al.
Pageof 8