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Showing results (31-40 of 36) with videos related to

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Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.
Human Mutation|August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in FranceM Claustres, C Guittard, D Bozon, et al.
Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.
Journal of Medical Genetics|October 30, 2007
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populationsM Witsch-Baumgartner, I Schwentner, M Gruber, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 25, 2022
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapyA Bergougnoux, A Billet, C Ka, et al.
Journal of Medical Genetics|November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningC Thauvin-Robinet, A Munck, F Huet, et al.
Pageof 4

Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
Human Mutation|February 19, 2000
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasiaA Taillandier, E Cozien, F Muller, et al.
Human Mutation|August 3, 2000
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in FranceM Claustres, C Guittard, D Bozon, et al.
Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.
Journal of Medical Genetics|October 30, 2007
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populationsM Witsch-Baumgartner, I Schwentner, M Gruber, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 25, 2022
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapyA Bergougnoux, A Billet, C Ka, et al.
Journal of Medical Genetics|November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningC Thauvin-Robinet, A Munck, F Huet, et al.
Pageof 4