Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 9

Results: 23

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 976, doi. 10.1002/humu.23037

By:

Pupavac, Mihaela;
Watkins, David;
Petrella, Francis;
Fahiminiya, Somayyeh;
Janer, Alexandre;
Cheung, Warren;
Gingras, Anne‐Claude;
Pastinen, Tomi;
Muenzer, Joseph;
Majewski, Jacek;
Shoubridge, Eric A.;
Rosenblatt, David S.

Publication type:

Article

A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 964, doi. 10.1002/humu.23034

By:

Zaghlool, Ammar;
Halvardson, Jonatan;
Zhao, Jin J.;
Etemadikhah, Mitra;
Kalushkova, Antonia;
Konska, Katarzyna;
Jernberg‐Wiklund, Helena;
Thuresson, Ann‐Charlotte;
Feuk, Lars

Publication type:

Article

A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 904, doi. 10.1002/humu.23014

By:

Umer, Husen M.;
Cavalli, Marco;
Dabrowski, Michal J.;
Diamanti, Klev;
Kruczyk, Marcin;
Pan, Gang;
Komorowski, Jan;
Wadelius, Claes

Publication type:

Article

Human Mitochondrial Cytochrome b Variants Studied in Yeast: Not All Are Silent Polymorphisms.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 933, doi. 10.1002/humu.23024

By:

Song, Zehua;
Laleve, Anaïs;
Vallières, Cindy;
McGeehan, John E.;
Lloyd, Rhiannon E.;
Meunier, Brigitte

Publication type:

Article

The SSV Evaluation System: A Tool to Prioritize Short Structural Variants for Studies of Possible Regulatory and Causal Variants.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 877, doi. 10.1002/humu.23023

By:

Saul, Robert;
Lutz, Michael W.;
Burns, Daniel K.;
Roses, Allen D.;
Chiba‐Falek, Ornit

Publication type:

Article

Super-Transactivation TP53 Variant in the Germline of a Family with Li-Fraumeni Syndrome.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 889, doi. 10.1002/humu.23025

By:

Id Said, Badr;
Kim, Han;
Tran, James;
Novokmet, Ana;
Malkin, David

Publication type:

Article

A coupled discrete element-finite difference approach for modeling mechanical response of fluid-saturated porous materials.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 623, doi. 10.1002/nme.5134

By:

Psakhie, S. G.;
Dimaki, A. V.;
Shilko, E. V.;
Astafurov, S. V.

Publication type:

Article

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 898, doi. 10.1002/humu.23033

By:

Nasca, Alessia;
Legati, Andrea;
Baruffini, Enrico;
Nolli, Cecilia;
Moroni, Isabella;
Ardissone, Anna;
Goffrini, Paola;
Ghezzi, Daniele

Publication type:

Article

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 884, doi. 10.1002/humu.23021

By:

Linnankivi, Tarja;
Neupane, Nirajan;
Richter, Uwe;
Isohanni, Pirjo;
Tyynismaa, Henna

Publication type:

Article

Functional Analysis of Missense Variants in the Putative Breast Cancer Susceptibility Gene XRCC2.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 915, doi. 10.1002/humu.23019

By:

Hilbers, Florentine S.;
Luijsterburg, Martijn S.;
Wiegant, Wouter W.;
Meijers, Caro M.;
Völker‐Albert, Moritz;
Boonen, Rick A.;
Asperen, Christi J.;
Devilee, Peter;
Attikum, Haico

Publication type:

Article

Classification of Missense Variants in XRCC2 by Functional Analysis: Implications for Breast Cancer Association Studies.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 172, doi. 10.1002/humu.22886

By:

Hansen, Thomas van Overeem

Publication type:

Article

Silent or Not Silent? Consequences of the Human mt-cyb Polymorphism.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 172, doi. 10.1002/humu.22885

By:

Zito, Francesca

Publication type:

Article

Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 943, doi. 10.1002/humu.23027

By:

Doucet‐O'Hare, Tara T.;
Sharma, Reema;
Rodić, Nemanja;
Anders, Robert A.;
Burns, Kathleen H.;
Kazazian, Haig H.

Publication type:

Article

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 927, doi. 10.1002/humu.23018

By:

DesRoches, Caro‐Lyne;
Bruun, Theodora;
Wang, Peixiang;
Marshall, Christian R.;
Mercimek‐Mahmutoglu, Saadet

Publication type:

Article

A dynamic mesh strategy applied to the simulation of flapping wings.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 664, doi. 10.1002/nme.5160

By:

Shuanghou Deng;
Tianhang Xiao;
van Oudheusden, Bas;
Bijl, Hester

Publication type:

Article

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 893, doi. 10.1002/humu.23028

By:

Chen, Wuyan;
Perritt, Ashley F.;
Morissette, Rachel;
Dreiling, Jennifer L.;
Bohn, Markus‐Frederik;
Mallappa, Ashwini;
Xu, Zhi;
Quezado, Martha;
Merke, Deborah P.

Publication type:

Article

A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 835, doi. 10.1002/humu.23017

By:

Chandler, Madison R.;
Bilgili, Erin P.;
Merner, Nancy D.

Publication type:

Article

Fourth-order energy-preserving locally implicit time discretization for linear wave equations.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 593, doi. 10.1002/nme.5130

By:

Chabassier, J.;
Imperiale, S.

Publication type:

Article

TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 865, doi. 10.1002/humu.23035

By:

Bouaoun, Liacine;
Sonkin, Dmitriy;
Ardin, Maude;
Hollstein, Monica;
Byrnes, Graham;
Zavadil, Jiri;
Olivier, Magali

Publication type:

Article

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 847, doi. 10.1002/humu.23026

By:

Bögershausen, Nina;
Gatinois, Vincent;
Riehmer, Vera;
Kayserili, Hülya;
Becker, Jutta;
Thoenes, Michaela;
Simsek‐Kiper, Pelin Özlem;
Barat‐Houari, Mouna;
Elcioglu, Nursel H.;
Wieczorek, Dagmar;
Tinschert, Sigrid;
Sarrabay, Guillaume;
Strom, Tim M.;
Fabre, Aurélie;
Baynam, Gareth;
Sanchez, Elodie;
Nürnberg, Gudrun;
Altunoglu, Umut;
Capri, Yline;
Isidor, Bertrand

Publication type:

Article

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 955, doi. 10.1002/humu.23032

By:

Barnett, Christopher P.;
Nataren, Nathalie J.;
Klingler‐Hoffmann, Manuela;
Schwarz, Quenten;
Chong, Chan‐Eng;
Lee, Young K.;
Bruno, Damien L.;
Lipsett, Jill;
McPhee, Andrew J.;
Schreiber, Andreas W.;
Feng, Jinghua;
Hahn, Christopher N.;
Scott, Hamish S.

Publication type:

Article

Projection-based model reduction for contact problems.

Published in:

Human Mutation, 2016, v. 37, n. 9, p. 644, doi. 10.1002/nme.5135

By:

Balajewicz, Maciej;
Amsallem, David;
Farhat, Charbel

Publication type:

Article

ERRATUM.

Published in:: Human Mutation, 2016, v. 37, n. 9, p. 983
Publication type:: Article