Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 6

Results: 14

HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 576, doi. 10.1002/humu.22978

By:

Deans, Zandra C.;
Fairley, Jennifer A.;
Dunnen, Johan T;
Clark, Caroline

Publication type:

Article

Infectious Enthusiasm! Larger than Life! That Laugh! That Smile! In Loving Memory of Richard G.H. (Dick) Cotton.

Published in:: Human Mutation, 2016, v. 37, n. 6, p. 598, doi. 10.1002/humu.22990
Publication type:: Article

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 564, doi. 10.1002/humu.22981

By:

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 E.M.

Publication type:

Article

LSDBs and How They Have Evolved.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 532, doi. 10.1002/humu.22979

By:

Dalgleish, Raymond

Publication type:

Article

What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 570, doi. 10.1002/humu.22975

By:

Tack, Véronique;
Deans, Zandra C.;
Wolstenholme, Nicola;
Patton, Simon;
Dequeker, Elisabeth M. C.

Publication type:

Article

Variation Interpretation Predictors: Principles, Types, Performance, and Choice.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 579, doi. 10.1002/humu.22987

By:

Niroula, Abhishek;
Vihinen, Mauno

Publication type:

Article

Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 559, doi. 10.1002/humu.22982

By:

Bean, Lora J.H.;
Hegde, Madhuri R.

Publication type:

Article

Human Variome Project Quality Assessment Criteria for Variation Databases.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 549, doi. 10.1002/humu.22976

By:

Vihinen, Mauno;
Hancock, John M.;
Maglott, Donna R.;
Landrum, Melissa J.;
Schaafsma, Gerard C. P.;
Taschner, Peter

Publication type:

Article

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 540, doi. 10.1002/humu.22974

By:

Shen, Lishuang;
Diroma, Maria Angela;
Gonzalez, Michael;
Navarro‐Gomez, Daniel;
Leipzig, Jeremy;
Lott, Marie T.;
Oven, Mannis;
Wallace, Douglas C.;
Muraresku, Colleen Clarke;
Zolkipli‐Cunningham, Zarazuela;
Chinnery, Patrick F.;
Attimonelli, Marcella;
Zuchner, Stephan;
Falk, Marni J.;
Gai, Xiaowu

Publication type:

Article

Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 524, doi. 10.1002/humu.22977

By:

Verstraeten, Aline;
Alaerts, Maaike;
Laer, Lut;
Loeys, Bart

Publication type:

Article

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 516, doi. 10.1002/humu.22989

By:

Abulí, Anna;
Boada, Montserrat;
Rodríguez‐Santiago, Benjamín;
Coroleu, Buenaventura;
Veiga, Anna;
Armengol, Lluís;
Barri, Pedro N.;
Pérez‐Jurado, Luis A.;
Estivill, Xavier

Publication type:

Article

Genetics of Phenylketonuria: Then and Now.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 508, doi. 10.1002/humu.22980

By:

Blau, Nenad

Publication type:

Article

The Human Variome Project.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 505, doi. 10.1002/humu.22986

By:

Burn, John;
Watson, Michael

Publication type:

Article

25 Years of Human Mutation.

Published in:

Human Mutation, 2016, v. 37, n. 6, p. 503, doi. 10.1002/humu.22988

By:

Cutting, Garry R.;
Kazazian, Haig H.

Publication type:

Article