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Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S31 - S32
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S30 - S30
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S30 - S30
Journal Article
Nature reviews. Drug discovery, 12/2017
The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of... 
Journal Article
Pathology, ISSN 0031-3025, 02/2016, Volume 48, pp. S31 - S31
Journal Article
Nature Reviews Drug Discovery, ISSN 1474-1776, 02/2018, Volume 17, Issue 3, pp. 151 - 152
The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | PHARMACOLOGY & PHARMACY | Rare diseases | Care and treatment | Genetic aspects | Diagnosis | Research | Medical diagnosis | Index Medicus
Journal Article
Nature, ISSN 0028-0836, 09/2011, Volume 477, Issue 7363, pp. 211 - 215
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2017, Volume 376, Issue 1, pp. 83 - 85
An accurate diagnosis is essential for effective medical management; in the case of rare genetic disease, it also guides genetic counseling. Nevertheless,... 
MEDICINE, GENERAL & INTERNAL | DISEASE | Time Factors | Humans | Genetic disorders | Diagnosis | Patients | Health aspects | Genetics | Medical diagnosis | Genetic screening | Index Medicus | Abridged Index Medicus
Journal Article
Genetics, ISSN 0016-6731, 10/2014, Volume 198, Issue 2, pp. 443 - 445
In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and... 
DISORDERS | PROJECT | FUTURE | GENETICS | DISCOVERY | GENETICS & HEREDITY | Female | Male | Animals | Microcephaly - genetics | Ribosomal Proteins - genetics | Humans | Development and progression | Genetic disorders | Research | Ribosomal proteins | Microcephaly | Genetic research | Pathogenesis | Genomics | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2019
An amendment to this paper has been published and can be accessed via a link at the top of the paper. 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2019
PURPOSEExome sequencing (ES) can rapidly identify disease-causing variants responsible for rare, single-gene diseases, and potentially reduce the duration of... 
Journal Article
Muscle & Nerve, ISSN 0148-639X, 12/2015, Volume 52, Issue 6, pp. 1135 - 1136
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 10, pp. 915 - 921
Journal Article
Human Mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1281 - 1285
The Matchmaker Exchange (MME) connects rare disease clinicians and researchers to facilitate the sharing of data from undiagnosed patients for the purpose of... 
precision medicine | privacy | consent | data sharing | data access | personalized medicine | Consent
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 695 - 705
Journal Article