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Studies

1323 Case Reports

758 Unclassified

325 Reviews

218 Other Trials

179 Research

108 Advanced Trials

62 Early Trials

Guidelines

2 Consensuses

1 Guidelines

Congresses

170 Abstracts

1

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

Institutional score
17.79
Impact
2459.31

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Date 01 Mar 1995

Institutional score
17.79
Impact
2459.31
2

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

Institutional score
16.38
Impact
710.47

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Date 15 Jul 1988

Institutional score
16.38
Impact
710.47
3

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

Institutional score
206.61
Impact
432.04

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Date 01 Feb 2016

Institutional score
206.61
Impact
432.04
4

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

Institutional score
371.90
Impact
270.94

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Date 01 Jun 2002

Institutional score
371.90
Impact
270.94
5

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

Institutional score
16.87
Impact
201.08

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Date 01 May 2004

Institutional score
16.87
Impact
201.08
6

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

Institutional score
0.00
Impact
197.35

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Date 01 Apr 2002

Institutional score
0.00
Impact
197.35
7

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

Institutional score
0.00
Impact
196.14

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Date 01 Jul 1975

Institutional score
0.00
Impact
196.14
8

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

Institutional score
212.51
Impact
196.14

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Date 01 Oct 2015

Institutional score
212.51
Impact
196.14
9

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

Institutional score
0.00
Impact
196.14

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Date 01 Dec 2006

Institutional score
0.00
Impact
196.14
10

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

Institutional score
116.22
Impact
196.14

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Date 01 Jul 2001

Institutional score
116.22
Impact
196.14

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