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All Pubmed data courtesy of the U.S. National Library of Medicine. Library last updated 19 December 2020.
Clinical trials databases last updated 1 December 2020 (clinicaltrials.gov) and 1 December 2020 (ictrp)
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Studies
1323 Case Reports
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325 Reviews
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62 Early Trials
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2 Consensuses
1 Guidelines
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170 Abstracts
Research
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
McLean W H, Rugg E L, Lunny D P, Morley S M, Lane E B ...
Nature genetics Vol 9(3)
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Date 01 Mar 1995
Research
Congenital poisoning by polychlorinated biphenyls and their contaminants in Taiwan.
Rogan W J, Gladen B C, Hung K L, Koong S L, Shih L Y ...
Science (New York, N.Y.) Vol 241(4863)
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Date 15 Jul 1988
Research
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann Malte, Kakar Naseebullah, Tayebi Naeimeh, Leettola Catherine, Nürnberg Gudrun ...
Genome research Vol 26(2)
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Date 01 Feb 2016
Research
Keratin 17 null mice exhibit age- and strain-dependent alopecia.
McGowan Kevin M, Tong Xuemei, Colucci-Guyon Emma, Langa Francina, Babinet Charles ...
Genes & development Vol 16(11)
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Date 01 Jun 2002
Research
Ankylosing enthesitis, dactylitis, and onychoperiostitis in male DBA/1 mice: a model of psoriatic arthritis.
Lories R J U, Matthys P, de Vlam K, Derese I, Luyten F P
Annals of the rheumatic diseases Vol 63(5)
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Date 01 May 2004
Research
Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation.
Miner Jeffrey H, Morello Roy, Andrews Kaya L, Li Cong, Antignac Corinne ...
The Journal of clinical investigation Vol 109(8)
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Date 01 Apr 2002
Research
A genetic electrophoretic variant of human hair alpha polypeptides.
Baden H P, Lee L D, Kubilus J
American journal of human genetics Vol 27(4)
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Date 01 Jul 1975
Research
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ratbi Ilham, Falkenberg Kim D, Sommen Manou, Al-Sheqaih Nada, Guaoua Soukaina ...
American journal of human genetics Vol 97(4)
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Date 01 Oct 2015
Research
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann C, Senderek J, Anhuf D, Thiel C T, Ekici A B ...
American journal of human genetics Vol 79(6)
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Date 01 Dec 2006
Research
A nonsense mutation in MSX1 causes Witkop syndrome.
Jumlongras D, Bei M, Stimson J M, Wang W F, DePalma S R ...
American journal of human genetics Vol 69(1)
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Date 01 Jul 2001
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