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Beatrice Oneda

Showing results (1-10 of 34) with videos related to

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Best Practice & Research. Clinical Obstetrics & Gynaecology|February 21, 2017
Microarrays in prenatal diagnosisBeatrice Oneda, Anita Rauch
European Journal of Medical Genetics|October 1, 2022
A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriersAnaïs Begemann, Beatrice Oneda, Alessandra Baumer, et al.
Pharmacogenetics and Genomics|October 6, 2009
The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping testBeatrice Oneda, Severine Crettol, Evelyne Jaquenoud Sirot, et al.
The FEBS Journal|August 2, 2008
A novel 2D-based approach to the discovery of candidate substrates for the metalloendopeptidase meprinDaniel Ambort, Daniel Stalder, Daniel Lottaz, et al.
Molecular Genetics & Genomic Medicine|August 5, 2020
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)Reza Asadollahi, Christian Britschgi, Pascal Joset, et al.
American Journal of Medical Genetics. Part A|June 25, 2013
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuriaDeborah Bartholdi, Reza Asadollahi, Beatrice Oneda, et al.
Stem Cell Research|July 23, 2025
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC linesJoana Figueiro-Silva, Melanie Eschment, Michelle Mennel, et al.
Therapeutic Drug Monitoring|July 22, 2008
CYP2D6 and ABCB1 genetic variability: influence on paroxetine plasma level and therapeutic responseMarianne Gex-Fabry, Chin B Eap, Beatrice Oneda, et al.
Plos One|May 15, 2008
The metalloprotease meprinbeta processes E-cadherin and weakens intercellular adhesionMaya Huguenin, Eliane J Müller, Sandra Trachsel-Rösmann, et al.
American Journal of Medical Genetics. Part A|March 22, 2017
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1BMarkus Zweier, Maarit M Peippo, Minna Pöyhönen, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Best Practice & Research. Clinical Obstetrics & Gynaecology|February 21, 2017
Microarrays in prenatal diagnosisBeatrice Oneda, Anita Rauch
European Journal of Medical Genetics|October 1, 2022
A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriersAnaïs Begemann, Beatrice Oneda, Alessandra Baumer, et al.
Pharmacogenetics and Genomics|October 6, 2009
The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping testBeatrice Oneda, Severine Crettol, Evelyne Jaquenoud Sirot, et al.
The FEBS Journal|August 2, 2008
A novel 2D-based approach to the discovery of candidate substrates for the metalloendopeptidase meprinDaniel Ambort, Daniel Stalder, Daniel Lottaz, et al.
Molecular Genetics & Genomic Medicine|August 5, 2020
Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)Reza Asadollahi, Christian Britschgi, Pascal Joset, et al.
American Journal of Medical Genetics. Part A|June 25, 2013
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuriaDeborah Bartholdi, Reza Asadollahi, Beatrice Oneda, et al.
Stem Cell Research|July 23, 2025
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC linesJoana Figueiro-Silva, Melanie Eschment, Michelle Mennel, et al.
Therapeutic Drug Monitoring|July 22, 2008
CYP2D6 and ABCB1 genetic variability: influence on paroxetine plasma level and therapeutic responseMarianne Gex-Fabry, Chin B Eap, Beatrice Oneda, et al.
Plos One|May 15, 2008
The metalloprotease meprinbeta processes E-cadherin and weakens intercellular adhesionMaya Huguenin, Eliane J Müller, Sandra Trachsel-Rösmann, et al.
American Journal of Medical Genetics. Part A|March 22, 2017
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1BMarkus Zweier, Maarit M Peippo, Minna Pöyhönen, et al.
Pageof 4