Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 3

Results: 15

PERCH: A Unified Framework for Disease Gene Prioritization.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 243, doi. 10.1002/humu.23158

By:

Feng, Bing‐Jian

Publication type:

Article

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 324, doi. 10.1002/humu.23150

By:

Ardui, Simon;
Race, Valerie;
Zablotskaya, Alena;
Hestand, Matthew S.;
Esch, Hilde;
Devriendt, Koenraad;
Matthijs, Gert;
Vermeesch, Joris R.

Publication type:

Article

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 297, doi. 10.1002/humu.23161

By:

der Zee, Julie;
Gijselinck, Ilse;
Mossevelde, Sara;
Perrone, Federica;
Dillen, Lubina;
Heeman, Bavo;
Bäumer, Veerle;
Engelborghs, Sebastiaan;
Bleecker, Jan;
Baets, Jonathan;
Gelpi, Ellen;
Rojas‐García, Ricardo;
Clarimón, Jordi;
Lleó, Alberto;
Diehl‐Schmid, Janine;
Alexopoulos, Panagiotis;
Perneczky, Robert;
Synofzik, Matthis;
Just, Jennifer;
Schöls, Ludger

Publication type:

Article

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 252, doi. 10.1002/humu.23160

By:

Nishio, Shin‐ya;
Usami, Shin‐ichi

Publication type:

Article

Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 275, doi. 10.1002/humu.23162

By:

Jahic, Amir;
Hinreiner, Sophie;
Emberger, Werner;
Hehr, Ute;
Zuchner, Stephan;
Beetz, Christian

Publication type:

Article

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 260, doi. 10.1002/humu.23140

By:

Novara, Francesca;
Groeneweg, Stefan;
Freri, Elena;
Estienne, Margherita;
Reho, Paolo;
Matricardi, Sara;
Castellotti, Barbara;
Visser, W. Edward;
Zuffardi, Orsetta;
Visser, Theo J.

Publication type:

Article

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 310, doi. 10.1002/humu.23166

By:

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.;
der Straaten, Tahar

Publication type:

Article

SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 279, doi. 10.1002/humu.23152

By:

Badior, Katherine E.;
Alka, Kumari;
Casey, Joseph R.

Publication type:

Article

Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 265, doi. 10.1002/humu.23154

By:

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

Publication type:

Article

Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 289, doi. 10.1002/humu.23155

By:

Ittisoponpisan, Sirawit;
Alhuzimi, Eman;
Sternberg, Michael J. E.;
David, Alessia

Publication type:

Article

Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 269, doi. 10.1002/humu.23157

By:

Heikkinen, Tuomas;
Kämpjärvi, Kati;
Keskitalo, Salla;
von Nandelstadh, Pernilla;
Liu, Xiaonan;
Rantanen, Ville;
Pitkänen, Esa;
Kinnunen, Matias;
Kuusanmäki, Heikki;
Kontro, Mika;
Turunen, Mikko;
Mäkinen, Netta;
Taipale, Jussi;
Heckman, Caroline;
Lehti, Kaisa;
Mustjoki, Satu;
Varjosalo, Markku;
Vahteristo, Pia

Publication type:

Article

One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 241, doi. 10.1002/humu.23180

By:

Vihinen, Mauno

Publication type:

Article

Cover Image, Volume 38, Issue 3.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. i, doi. 10.1002/humu.23194

By:

Takeda, Kazuki;
Kou, Ikuyo;
Kawakami, Noriaki;
Iida, Aritoshi;
Nakajima, Masahiro;
Ogura, Yoji;
Imagawa, Eri;
Miyake, Noriko;
Matsumoto, Naomichi;
Yasuhiko, Yukuto;
Sudo, Hideki;
Kotani, Toshiaki;
Nakamura, Masaya;
Matsumoto, Morio;
Watanabe, Kota;
Ikegawa, Shiro

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2017, v. 38, n. 3, p. 237, doi. 10.1002/humu.23187
Publication type:: Article

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.

Published in:

Human Mutation, 2017, v. 38, n. 3, p. 317, doi. 10.1002/humu.23168

By:

Takeda, Kazuki;
Kou, Ikuyo;
Kawakami, Noriaki;
Iida, Aritoshi;
Nakajima, Masahiro;
Ogura, Yoji;
Imagawa, Eri;
Miyake, Noriko;
Matsumoto, Naomichi;
Yasuhiko, Yukuto;
Sudo, Hideki;
Kotani, Toshiaki;
Nakamura, Masaya;
Matsumoto, Morio;
Watanabe, Kota;
Ikegawa, Shiro

Publication type:

Article