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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in medicine, 2015-05, Vol.17 (5), p.405-424

2015

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Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper

Haemophilia : the official journal of the World Federation of Hemophilia, 2019-01, Vol.25 (1), p.116-126

2019

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An operational definition of epigenetics

Genes & development, 2009-04, Vol.23 (7), p.781-783

2009

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Industrial Symbiosis Dynamics and the Problem of Equivalence: Proposal for a Comparative Framework

Journal of industrial ecology, 2017-08, Vol.21 (4), p.938-952

2017

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The Attitudes-Behaviors Corrective (ABC) Model of Violent Extremism

Terrorism and political violence, 2022-04, Vol.34 (3), p.425-450

2022

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Cytological features of “noninvasive follicular thyroid neoplasm with papillary-like nuclear features” and their correlation with tumor histology

Human pathology, 2016-08, Vol.54, p.134-142

2016

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Neuropathic pain: redefinition and a grading system for clinical and research purposes

Neurology, 2008-04, Vol.70 (18), p.1630

2008

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A user's guide to non‐invasive follicular thyroid neoplasm with papillary‐like nuclear features (NIFTP)

Histopathology, 2018-01, Vol.72 (1), p.53-69

2018

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Elements of morphology: General terms for congenital anomalies

American journal of medical genetics. Part A, 2013-11, Vol.161A (11), p.2726-2733

2013

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Human mutation, 2008-01, Vol.29 (1), p.6-13

2008

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Pharmacogene Variation Consortium Gene Introduction: NUDT15

Clinical pharmacology and therapeutics, 2019-05, Vol.105 (5), p.1091-1094

2019

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The Problem of Natiolect in Connection with the Language Interference and the Specifics of Terminology Translation

Jazykovedný časopis, 2021-12, Vol.72 (3), p.787-807

2021

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Defining "mutation" and "polymorphism" in the era of personal genomics

BMC medical genomics, 2015-07, Vol.8 (1), p.37-37, Article 37

2015

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Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Human mutation, 2021-01, Vol.42 (1), p.3-7

2021

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Describing Sequence Variants Using HGVS Nomenclature

Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1492, p.243

den Dunnen, Johan T

2017

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A Research Note on Austronesian Relationship Terminologies With and Without Relative Age Categories

Oceania, 2023-03, Vol.93 (1), p.57-71

Fox, James J.

2023

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Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

Human mutation, 2020-01, Vol.41 (1), p.7-16

2020

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One name one place? Dealing with toponyms in WWI

GeoJournal, 2018-02, Vol.83 (1), p.87-99

2018

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Nomenclature- and database-compatible names for the two Ebola virus variants that emerged in Guinea and the Democratic Republic of the Congo in 2014

Viruses, 2014-11, Vol.6 (11), p.4760-4799

2014

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

Human mutation, 2016-06, Vol.37 (6), p.576-578

2016

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Nomenclature for the KIR of non-human species

Immunogenetics (New York), 2018-09, Vol.70 (9), p.571-583

2018

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Chinese IT terminology management in Hong Kong

International journal of the sociology of language, 2015-03, Vol.2015 (232), p.79-101

2015

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Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

Human mutation, 2014-08, Vol.35 (8), p.927-935

2014

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors’ Organisation Good Practice Paper

An operational definition of epigenetics

Industrial Symbiosis Dynamics and the Problem of Equivalence: Proposal for a Comparative Framework

The Attitudes-Behaviors Corrective (ABC) Model of Violent Extremism

Cytological features of “noninvasive follicular thyroid neoplasm with papillary-like nuclear features” and their correlation with tumor histology

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Neuropathic pain: redefinition and a grading system for clinical and research purposes

A user's guide to non‐invasive follicular thyroid neoplasm with papillary‐like nuclear features (NIFTP)

Elements of morphology: General terms for congenital anomalies

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Pharmacogene Variation Consortium Gene Introduction: NUDT15

The Problem of Natiolect in Connection with the Language Interference and the Specifics of Terminology Translation

Defining "mutation" and "polymorphism" in the era of personal genomics

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Consensus definitions and application guidelines for control groups in cerebrospinal fluid biomarker studies in multiple sclerosis

Describing Sequence Variants Using HGVS Nomenclature

A Research Note on Austronesian Relationship Terminologies With and Without Relative Age Categories

Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

One name one place? Dealing with toponyms in WWI

Nomenclature- and database-compatible names for the two Ebola virus variants that emerged in Guinea and the Democratic Republic of the Congo in 2014

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

Nomenclature for the KIR of non-human species

Chinese IT terminology management in Hong Kong

Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

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