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Volume 37; Issue 6
Main
Human Mutation
Volume 37; Issue 6
Human Mutation
Volume 37; Issue 6
1
What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases
Tack, Véronique
,
Deans, Zandra C.
,
Wolstenholme, Nicola
,
Patton, Simon
,
Dequeker, Elisabeth M. C.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 148 KB
Your tags:
english, 2016
2
Genetics of Phenylketonuria: Then and Now
Blau, Nenad
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 535 KB
Your tags:
english, 2016
3
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
den Dunnen, Johan T.
,
Dalgleish, Raymond
,
Maglott, Donna R.
,
Hart, Reece K.
,
Greenblatt, Marc S.
,
McGowan-Jordan, Jean
,
Roux, Anne-Francoise
,
Smith, Timothy
,
Antonarakis, Stylianos E.
,
Taschner, Peter
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 182 KB
Your tags:
english, 2016
4
Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 1.23 MB
Your tags:
english, 2016
5
25 Years of Human Mutation
Cutting, Garry R.
,
Kazazian, Haig H.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2016
6
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
Bean, Lora J.H.
,
Hegde, Madhuri R.
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 228 KB
Your tags:
english, 2016
7
Variation Interpretation Predictors: Principles, Types, Performance, and Choice
Niroula, Abhishek
,
Vihinen, Mauno
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 802 KB
Your tags:
english, 2016
8
Cover Image, Volume 37, Issue 6
Journal:
Human Mutation
Year:
2016
File:
PDF, 753 KB
Your tags:
2016
9
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
Shen, Lishuang
,
Diroma, Maria Angela
,
Gonzalez, Michael
,
Navarro-Gomez, Daniel
,
Leipzig, Jeremy
,
Lott, Marie T.
,
van Oven, Mannis
,
Wallace, Douglas C.
,
Muraresku, Colleen Clarke
,
Zolkipli-Cunningham,
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 343 KB
Your tags:
english, 2016
10
HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme
Deans, Zandra C.
,
Fairley, Jennifer A.
,
den Dunnen, Johan T
,
Clark, Caroline
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 333 KB
Your tags:
english, 2016
11
LSDBs and How They Have Evolved
Dalgleish, Raymond
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 185 KB
Your tags:
english, 2016
12
Issue Information
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 455 KB
Your tags:
english, 2016
13
Human Variome Project Quality Assessment Criteria for Variation Databases
Vihinen, Mauno
,
Hancock, John M.
,
Maglott, Donna R.
,
Landrum, Melissa J.
,
Schaafsma, Gerard C. P.
,
Taschner, Peter
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 430 KB
Your tags:
english, 2016
14
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine
Abulí, Anna
,
Boada, Montserrat
,
Rodríguez-Santiago, Benjamín
,
Coroleu, Buenaventura
,
Veiga, Anna
,
Armengol, Lluís
,
Barri, Pedro N.
,
Pérez-Jurado, Luis A.
,
Estivill, Xavier
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 404 KB
Your tags:
english, 2016
15
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
Verstraeten, Aline
,
Alaerts, Maaike
,
Van Laer, Lut
,
Loeys, Bart
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 441 KB
Your tags:
english, 2016
16
The Human Variome Project
Burn, John
,
Watson, Michael
Journal:
Human Mutation
Year:
2016
Language:
english
File:
PDF, 169 KB
Your tags:
english, 2016
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