Volume 2; Issue 1

Molecular Genetics & Genomic Medicine

Volume 2; Issue 1

1

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

Farhan, Sali M. K., Wang, Jian, Robinson, John F., Lahiry, Piya, Siu, Victoria M., Prasad, Chitra, Kronick, Jonathan B., Ramsay, David A., Rupar, C. Anthony, Hegele, Robert A.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

2

Issue Information

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 444 KB

english, 2014

3

Identification and validation of loss of function variants in clinical contexts

Lescai, Francesco, Marasco, Elena, Bacchelli, Chiara, Stanier, Philip, Mantovani, Vilma, Beales, Philip

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 193 KB

english, 2014

4

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development

Darlow, J. M., Dobson, M. G., Darlay, R., Molony, C. M., Hunziker, M., Green, A. J., Cordell, H. J., Puri, P., Barton, D. E.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 2.61 MB

english, 2014

5

Experience of targeted Usher exome sequencing as a clinical test

Besnard, Thomas, García-García, Gema, Baux, David, Vaché, Christel, Faugère, Valérie, Larrieu, Lise, Léonard, Susana, Millan, Jose M., Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 927 KB

english, 2014

6

Candidate disease gene prediction using Gentrepid : application to a genome-wide association study on coronary artery disease

Ballouz, Sara, Liu, Jason Y., Oti, Martin, Gaeta, Bruno, Fatkin, Diane, Bahlo, Melanie, Wouters, Merridee A.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 862 KB

english, 2014

7

What does genomic medicine mean for diverse populations?

Adeyemo, Adebowale, Rotimi, Charles

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 159 KB

english, 2014

8

Two novel mutations identified in familial cases with Donohue syndrome

Falik Zaccai, Tzipora C., Kalfon, Limor, Klar, Aharon, Elisha, Mordechai Ben, Hurvitz, Haggit, Weingarten, Galina, Chechik, Emelia, Fleisher Sheffer, Vered, Haj Yahya, Raid, Meidan, Gal, Gross-Kiesels

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

9

Genetics and genomic medicine around the world

Hart, Suzanne, Muenke, Maximilian

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 155 KB

english, 2014

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