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Volume 38; Issue 3
Main
Human Mutation
Volume 38; Issue 3
Human Mutation
Volume 38; Issue 3
1
SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations
Badior, Katherine E.
,
Alka, Kumari
,
Casey, Joseph R.
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 1.00 MB
Your tags:
english, 2017
2
Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk
Samuel, Nardin
,
Id Said, Badr
,
Guha, Tanya
,
Novokmet, Ana
,
Li, Weili
,
Silwal-Pandit, Laxmi
,
Børrsen-Dale, Anne-Lise
,
Langerød, Anita
,
Hudson, Thomas J.
,
Malkin, David
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 563 KB
Your tags:
english, 2017
3
Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights
Ittisoponpisan, Sirawit
,
Alhuzimi, Eman
,
Sternberg, Michael J. E.
,
David, Alessia
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 858 KB
Your tags:
english, 2017
4
PERCH: A Unified Framework for Disease Gene Prioritization
Feng, Bing-Jian
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 712 KB
Your tags:
english, 2017
5
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification
Nishio, Shin-ya
,
Usami, Shin-ichi
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 1.32 MB
Your tags:
english, 2017
6
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
van der Zee, Julie
,
Gijselinck, Ilse
,
Van Mossevelde, Sara
,
Perrone, Federica
,
Dillen, Lubina
,
Heeman, Bavo
,
Bäumer, Veerle
,
Engelborghs, Sebastiaan
,
De Bleecker, Jan
,
Baets, Jonathan
,
Gelpi, Ellen
,
R
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 1.25 MB
Your tags:
english, 2017
7
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions
Jahic, Amir
,
Hinreiner, Sophie
,
Emberger, Werner
,
Hehr, Ute
,
Zuchner, Stephan
,
Beetz, Christian
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 631 KB
Your tags:
english, 2017
8
Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing
Buermans, Henk P.J.
,
Vossen, Rolf H.A.M.
,
Anvar, Seyed Yahya
,
Allard, William G.
,
Guchelaar, Henk-Jan
,
White, Stefan J.
,
den Dunnen, Johan T.
,
Swen, Jesse J.
,
van der Straaten, Tahar
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 834 KB
Your tags:
english, 2017
9
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis
Takeda, Kazuki
,
Kou, Ikuyo
,
Kawakami, Noriaki
,
Iida, Aritoshi
,
Nakajima, Masahiro
,
Ogura, Yoji
,
Imagawa, Eri
,
Miyake, Noriko
,
Matsumoto, Naomichi
,
Yasuhiko, Yukuto
,
Sudo, Hideki
,
Kotani, Toshiaki
,
Nak
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 877 KB
Your tags:
english, 2017
10
Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry
Heikkinen, Tuomas
,
Kämpjärvi, Kati
,
Keskitalo, Salla
,
von Nandelstadh, Pernilla
,
Liu, Xiaonan
,
Rantanen, Ville
,
Pitkänen, Esa
,
Kinnunen, Matias
,
Kuusanmäki, Heikki
,
Kontro, Mika
,
Turunen, Mikko
,
Mäkin
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 1000 KB
Your tags:
english, 2017
11
One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins
Vihinen, Mauno
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 61 KB
Your tags:
english, 2017
12
Issue Information
Journal:
Human Mutation
Year:
2017
Language:
english
File:
PDF, 698 KB
Your tags:
english, 2017
13
Cover Image, Volume 38, Issue 3
Takeda, Kazuki
,
Kou, Ikuyo
,
Kawakami, Noriaki
,
Iida, Aritoshi
,
Nakajima, Masahiro
,
Ogura, Yoji
,
Imagawa, Eri
,
Miyake, Noriko
,
Matsumoto, Naomichi
,
Yasuhiko, Yukuto
,
Sudo, Hideki
,
Kotani, Toshiaki
,
Nak
Journal:
Human Mutation
Year:
2017
File:
PDF, 476 KB
Your tags:
2017
1
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