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BMC Medical Genetics
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June 13, 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Wahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, et al.
Database : the Journal of Biological Databases and Curation
|
April 12, 2012
MSV3d: database of human MisSense Variants mapped to 3D protein structure
Tien-Dao Luu, Alin-Mihai Rusu, Vincent Walter, et al.
Molecular Syndromology
|
January 8, 2015
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Mathilde Huckert, Helen Mecili, Virginie Laugel-Haushalter, et al.
Journal of Human Genetics
|
January 15, 2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Elise Schaefer, Corinne Stoetzel, Sophie Scheidecker, et al.
Genome Medicine
|
May 24, 2023
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study
Jean-Marie Ravel, Mathilde Renaud, Jean Muller, et al.
Nucleic Acids Research
|
November 4, 2010
The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored
Damian Szklarczyk, Andrea Franceschini, Michael Kuhn, et al.
Reproductive Sciences (Thousand Oaks, Calif.)
|
May 19, 2025
Correction: Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility
Özlem Okutman, Ali Sami Gürbüz, Ahmet Salvarci, et al.
Nucleic Acids Research
|
October 23, 2008
STRING 8--a global view on proteins and their functional interactions in 630 organisms
Lars J Jensen, Michael Kuhn, Manuel Stark, et al.
Reproductive Sciences (Thousand Oaks, Calif.)
|
April 25, 2024
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility
Özlem Okutman, Ali Sami Gürbüz, Ahmet Salvarci, et al.
Parkinsonism & Related Disorders
|
February 21, 2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxia
Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 103) with videos related to
Sort By:
Page
of 11
BMC Medical Genetics
|
June 13, 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Wahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, et al.
Database : the Journal of Biological Databases and Curation
|
April 12, 2012
MSV3d: database of human MisSense Variants mapped to 3D protein structure
Tien-Dao Luu, Alin-Mihai Rusu, Vincent Walter, et al.
Molecular Syndromology
|
January 8, 2015
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome
Mathilde Huckert, Helen Mecili, Virginie Laugel-Haushalter, et al.
Journal of Human Genetics
|
January 15, 2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome
Elise Schaefer, Corinne Stoetzel, Sophie Scheidecker, et al.
Genome Medicine
|
May 24, 2023
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study
Jean-Marie Ravel, Mathilde Renaud, Jean Muller, et al.
Nucleic Acids Research
|
November 4, 2010
The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored
Damian Szklarczyk, Andrea Franceschini, Michael Kuhn, et al.
Reproductive Sciences (Thousand Oaks, Calif.)
|
May 19, 2025
Correction: Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility
Özlem Okutman, Ali Sami Gürbüz, Ahmet Salvarci, et al.
Nucleic Acids Research
|
October 23, 2008
STRING 8--a global view on proteins and their functional interactions in 630 organisms
Lars J Jensen, Michael Kuhn, Manuel Stark, et al.
Reproductive Sciences (Thousand Oaks, Calif.)
|
April 25, 2024
Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility
Özlem Okutman, Ali Sami Gürbüz, Ahmet Salvarci, et al.
Parkinsonism & Related Disorders
|
February 21, 2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxia
Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, et al.
Page
of 11