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Showing results (191-200 of 212) with videos related to

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Human Mutation|October 26, 1999
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patientS Marlin, S Blanchard, R Slim, et al.
Journal of Medical Genetics|April 16, 1999
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndromeL Villard, M C Bonino, F Abidi, et al.
Clinical Genetics|January 21, 2017
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype studyC Tardieu, S Jung, K Niederreither, et al.
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Oecologia|July 30, 2020
Environmental factors influencing fine-scale distribution of Antarctica's only endemic insectLeslie J Potts, J D Gantz, Yuta Kawarasaki, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Clinical Genetics|May 20, 2014
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family historyK Nguyen, A Putoux, T Busa, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of Medical Genetics|June 15, 2010
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemiaB Pérez, F Mechinaud, C Galambrun, et al.
Journal of Medical Genetics|August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutationsN Bahi-Buisson, K Poirier, N Boddaert, et al.
Pageof 22

Showing results (191-200 of 212) with videos related to

Sort By:
Pageof 22
Human Mutation|October 26, 1999
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patientS Marlin, S Blanchard, R Slim, et al.
Journal of Medical Genetics|April 16, 1999
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndromeL Villard, M C Bonino, F Abidi, et al.
Clinical Genetics|January 21, 2017
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype studyC Tardieu, S Jung, K Niederreither, et al.
Clinical Genetics|December 1, 1996
Increased paternal age in CHARGE associationA L Tellier, S Lyonnet, V Cormier-Daire, et al.
Oecologia|July 30, 2020
Environmental factors influencing fine-scale distribution of Antarctica's only endemic insectLeslie J Potts, J D Gantz, Yuta Kawarasaki, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Clinical Genetics|May 20, 2014
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family historyK Nguyen, A Putoux, T Busa, et al.
American Journal of Human Genetics|October 12, 2001
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structuresJ Amiel, Y Espinosa-Parrilla, J Steffann, et al.
Journal of Medical Genetics|June 15, 2010
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemiaB Pérez, F Mechinaud, C Galambrun, et al.
Journal of Medical Genetics|August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutationsN Bahi-Buisson, K Poirier, N Boddaert, et al.
Pageof 22