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Best Practice & Research. Clinical Obstetrics & Gynaecology
|
February 21, 2017
Microarrays in prenatal diagnosis
Beatrice 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 carriers
Anaïs 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 test
Beatrice 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 meprin
Daniel 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 cystinuria
Deborah Bartholdi, Reza Asadollahi, Beatrice Oneda, et al.
Stem Cell Research
|
July 23, 2025
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
Joana 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 response
Marianne Gex-Fabry, Chin B Eap, Beatrice Oneda, et al.
Plos One
|
May 15, 2008
The metalloprotease meprinbeta processes E-cadherin and weakens intercellular adhesion
Maya 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 ARID1B
Markus Zweier, Maarit M Peippo, Minna Pöyhönen, et al.
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Search research articles
Search
Showing results (1-10 of 34) with videos related to
Sort By:
Page
of 4
Best Practice & Research. Clinical Obstetrics & Gynaecology
|
February 21, 2017
Microarrays in prenatal diagnosis
Beatrice 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 carriers
Anaïs 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 test
Beatrice 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 meprin
Daniel 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 cystinuria
Deborah Bartholdi, Reza Asadollahi, Beatrice Oneda, et al.
Stem Cell Research
|
July 23, 2025
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
Joana 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 response
Marianne Gex-Fabry, Chin B Eap, Beatrice Oneda, et al.
Plos One
|
May 15, 2008
The metalloprotease meprinbeta processes E-cadherin and weakens intercellular adhesion
Maya 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 ARID1B
Markus Zweier, Maarit M Peippo, Minna Pöyhönen, et al.
Page
of 4