Works matching IS 10597794 AND DT 2016 AND VI 37 AND IP 10

Results: 17

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 991, doi. 10.1002/humu.23042

By:

Rehman, Atteeq U.;
Bird, Jonathan E.;
Faridi, Rabia;
Shahzad, Mohsin;
Shah, Sujay;
Lee, Kwanghyuk;
Khan, Shaheen N.;
Imtiaz, Ayesha;
Ahmed, Zubair M.;
Riazuddin, Saima;
Santos‐Cortez, Regie Lyn P.;
Ahmad, Wasim;
Leal, Suzanne M.;
Riazuddin, Sheikh;
Friedman, Thomas B.

Publication type:

Article

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1051, doi. 10.1002/humu.23043

By:

Shen, Xin‐Ming;
Okuno, Tatsuya;
Milone, Margherita;
Otsuka, Kenji;
Takahashi, Koji;
Komaki, Hirofumi;
Giles, Elizabeth;
Ohno, Kinji;
Engel, Andrew G.

Publication type:

Article

Issue Information.

Published in:: Human Mutation, 2016, v. 37, n. 10, p. 985, doi. 10.1002/humu.22890
Publication type:: Article

MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1004, doi. 10.1002/humu.23036

By:

Walker, Christopher J.;
Miranda, Mario A.;
O'Hern, Matthew J.;
Blachly, James S.;
Moyer, Cassandra L.;
Ivanovich, Jennifer;
Kroll, Karl W.;
Eisfeld, Ann‐Kathrin;
Sapp, Caroline E.;
Mutch, David G.;
Cohn, David E.;
Bundschuh, Ralf;
Goodfellow, Paul J

Publication type:

Article

MicroRNA Genetic Variation: From Population Analysis to Functional Implications of Three Allele Variants Associated with Cancer.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1060, doi. 10.1002/humu.23045

By:

Torruella‐Loran, Ignasi;
Laayouni, Hafid;
Dobon, Begoña;
Gallego, Alicia;
Balcells, Ingrid;
Garcia‐Ramallo, Eva;
Espinosa‐Parrilla, Yolanda

Publication type:

Article

Both Generic and Protein-Specific Tolerance Predictors Are Needed.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 989, doi. 10.1002/humu.23069

By:

Vihinen, Mauno

Publication type:

Article

Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1106, doi. 10.1002/humu.23022

By:

Torres‐Español, María;
Anvar, Seyed Yahya;
Sobrido, María‐Jesús

Publication type:

Article

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1025, doi. 10.1002/humu.23031

By:

Girard, Muriel;
Bizet, Albane A.;
Lachaux, Alain;
Gonzales, Emmanuel;
Filhol, Emilie;
Collardeau‐Frachon, Sophie;
Jeanpierre, Cécile;
Henry, Charline;
Fabre, Monique;
Viremouneix, Loic;
Galmiche, Louise;
Debray, Dominique;
Bole‐Feysot, Christine;
Nitschke, Patrick;
Pariente, Danièle;
Guettier, Catherine;
Lyonnet, Stanislas;
Heidet, Laurence;
Bertholet, Aurelia;
Jacquemin, Emmanuel

Publication type:

Article

Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1074, doi. 10.1002/humu.23046

By:

Metherell, Louise A;
Guerra‐Assunção, José Afonso;
Sternberg, Michael J;
David, Alessia

Publication type:

Article

Deep Genetic Connection Between Cancer and Developmental Disorders.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1042, doi. 10.1002/humu.23040

By:

Qi, Hongjian;
Dong, Chengliang;
Chung, Wendy K.;
Wang, Kai;
Shen, Yufeng

Publication type:

Article

Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1030, doi. 10.1002/humu.23041

By:

Thomas, Anne;
Biswas, Arijit;
Dodt, Johannes;
Philippou, Helen;
Hethershaw, Emma;
Ensikat, Hans Juergen;
Ivaskevicius, Vytautas;
Oldenburg, Johannes

Publication type:

Article

Cover Image, Volume 37, Issue 10.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. i, doi. 10.1002/humu.23115

By:

Thomas, Anne;
Biswas, Arijit;
Dodt, Johannes;
Philippou, Helen;
Hethershaw, Emma;
Ensikat, Hans Juergen;
Ivaskevicius, Vytautas;
Oldenburg, Johannes

Publication type:

Article

Cancer Genetics May Aid Diagnostics of Developmental Disorders.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 989, doi. 10.1002/humu.23068

By:

Zak, Jaroslav;
Schuster‐Boeckler, Benjamin;
Bond, Gareth

Publication type:

Article

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1097, doi. 10.1002/humu.23047

By:

Blackburn, Patrick R.;
Hickey, Raymond D.;
Nace, Rebecca A.;
Giama, Nasra H.;
Kraft, Daniel L.;
Bordner, Andrew J.;
Chaiteerakij, Roongruedee;
McCormick, Jennifer B.;
Radulovic, Maja;
Graham, Rondell P.;
Torbenson, Michael S.;
Tortorelli, Silvia;
Scott, C. Ronald;
Lindor, Noralane M.;
Milliner, Dawn S.;
Oglesbee, Devin;
Al‐Qabandi, Wafa'a;
Grompe, Markus;
Gavrilov, Dimitar K.;
El‐Youssef, Mounif

Publication type:

Article

The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1013, doi. 10.1002/humu.23048

By:

Riera, Casandra;
Padilla, Natàlia;
la Cruz, Xavier

Publication type:

Article

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1085, doi. 10.1002/humu.23050

By:

Spickett, Carl;
Hysi, Pirro;
Hammond, Chistopher J;
Prescott, Alan;
Fincham, Gregory S;
Poulson, Arabella V;
McNinch, Annie M;
Richards, Allan J;
Snead, Martin P

Publication type:

Article

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1110, doi. 10.1002/humu.23059

By:

Oetting, William S.;
Brookes, Anthony J.;
Béroud, Christophe;
Taschner, Peter E.

Publication type:

Article