OpenURL Connection Search

Select item for more details and to access through your institution.

Truncating mutation in CSNK2B and myoclonic epilepsy.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1611, doi. 10.1002/humu.23307
By:
- Sakaguchi, Yuri;
- Uehara, Tomoko;
- Suzuki, Hisato;
- Kosaki, Kenjiro;
- Takenouchi, Toshiki
Publication type:
Article
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1569, doi. 10.1002/humu.23309
By:
- Li, Li‐Xi;
- Liu, Gong‐Lu;
- Liu, Zhi‐Jun;
- Lu, Cong;
- Wu, Zhi‐Ying
Publication type:
Article
BOC is a modifier gene in holoprosencephaly.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1464, doi. 10.1002/humu.23286
By:
- Hong, Mingi;
- Srivastava, Kshitij;
- Kim, Sungjin;
- Allen, Benjamin L.;
- Leahy, Daniel J.;
- Hu, Ping;
- Roessler, Erich;
- Krauss, Robert S.;
- Muenke, Maximilian
Publication type:
Article
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1542, doi. 10.1002/humu.23303
By:
- Sollis, Elliot;
- Deriziotis, Pelagia;
- Saitsu, Hirotomo;
- Miyake, Noriko;
- Matsumoto, Naomichi;
- Hoffer, Mariëtte J.V.;
- Ruivenkamp, Claudia A.L.;
- Alders, Mariëlle;
- Okamoto, Nobuhiko;
- Bijlsma, Emilia K.;
- Plomp, Astrid S.;
- Fisher, Simon E.
Publication type:
Article
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1511, doi. 10.1002/humu.23306
By:
- Böhringer, Judith;
- Santer, René;
- Schumacher, Neele;
- Gieseke, Friederike;
- Cornils, Kerstin;
- Pechan, Maria;
- Kustermann‐Kuhn, Birgit;
- Handgretinger, Rupert;
- Schöls, Ludger;
- Harzer, Klaus;
- Krägeloh‐Mann, Ingeborg;
- Müller, Ingo
Publication type:
Article
Detection of homozygous deletions in tumor-suppressor genes ranging from dozen to hundreds nucleotides in cancer models.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1449, doi. 10.1002/humu.23308
By:
- Chang, Lun‐Ching;
- Vural, Suleyman;
- Sonkin, Dmitriy
Publication type:
Article
Implementing pharmacogenomics in modern health care: The 2017 scientific meeting of the Human Genome Variation Society.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1606, doi. 10.1002/humu.23300
By:
- Lanting, Pauline;
- Oetting, William S.
Publication type:
Article
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1555, doi. 10.1002/humu.23301
By:
- Ghosh, Arunabha;
- Mercer, Jean;
- Mackinnon, Sabrina;
- Yue, Wyatt W;
- Church, Heather;
- Beesley, Clare E;
- Broomfield, Alex;
- Jones, Simon A;
- Tylee, Karen
Publication type:
Article
Cover Image, Volume 38, Issue 11.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. i, doi. 10.1002/humu.23347
By:
- Li, Li‐Xi;
- Liu, Gong‐Lu;
- Liu, Zhi‐Jun;
- Lu, Cong;
- Wu, Zhi‐Ying
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1445, doi. 10.1002/humu.23106
Publication type:
Article
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1491, doi. 10.1002/humu.23291
By:
- Wang, Nan;
- Zhang, Yeting;
- Gedvilaite, Erika;
- Loh, Jui Wan;
- Lin, Timothy;
- Liu, Xiuping;
- Liu, Chang‐Gong;
- Kumar, Dibyendu;
- Donnelly, Robert;
- Raymond, Kimiyo;
- Schuchman, Edward H.;
- Sleat, David E.;
- Lobel, Peter;
- Xing, Jinchuan
Publication type:
Article
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1471, doi. 10.1002/humu.23292
By:
- Rodriguez‐Zabala, Maria;
- Aza‐Carmona, Miriam;
- Rivera‐Pedroza, Carlos I.;
- Belinchón, Alberta;
- Guerrero‐Zapata, Isabel;
- Barraza‐García, Jimena;
- Vallespin, Elena;
- Lu, Min;
- del Pozo, Angela;
- Glucksman, Marc J.;
- Santos‐Simarro, Fernando;
- Heath, Karen E.
Publication type:
Article
Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1500, doi. 10.1002/humu.23296
By:
- Gao, Wenjie;
- Chen, Chong;
- Zhou, Taifeng;
- Yang, Shulan;
- Gao, Bo;
- Zhou, Hang;
- Lian, Chengjie;
- Wu, Zizhao;
- Qiu, Xianjian;
- Yang, Xiaoming;
- Alattar, Esam;
- Liu, Wentao;
- Su, Deying;
- Sun, Silong;
- Chen, Yulan;
- Cheung, Kenneth M. C.;
- Song, Youqiang;
- Luk, Keith K. D.;
- Chan, Danny;
- Sham, Pak Chung
Publication type:
Article
The role of de novo mutations in the development of amyotrophic lateral sclerosis.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1534, doi. 10.1002/humu.23295
By:
- Doormaal, Perry T.C.;
- Ticozzi, Nicola;
- Weishaupt, Jochen H.;
- Kenna, Kevin;
- Diekstra, Frank P.;
- Verde, Federico;
- Andersen, Peter M.;
- Dekker, Annelot M.;
- Tiloca, Cinzia;
- Marroquin, Nicolai;
- Overste, Daniel J.;
- Pensato, Viviana;
- Nürnberg, Peter;
- Pulit, Sara L.;
- Schellevis, Raymond D.;
- Calini, Daniela;
- Altmüller, Janine;
- Francioli, Laurent C.;
- Muller, Bernard;
- Castellotti, Barbara
Publication type:
Article
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1579, doi. 10.1002/humu.23311
By:
- Mayer, Anja K.;
- Cauwenbergh, Caroline;
- Rother, Christine;
- Baumann, Britta;
- Reuter, Peggy;
- Baere, Elfride;
- Wissinger, Bernd;
- Kohl, Susanne
Publication type:
Article
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1613, doi. 10.1002/humu.23316
By:
- Schaafsma, Gerard C. P.;
- Vihinen, Mauno
Publication type:
Article
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
By:
- Soens, Zachry T.;
- Branch, Justin;
- Wu, Shijing;
- Yuan, Zhisheng;
- Li, Yumei;
- Li, Hui;
- Wang, Keqing;
- Xu, Mingchu;
- Rajan, Lavan;
- Motta, Fabiana L.;
- Simões, Renata T.;
- Lopez‐Solache, Irma;
- Ajlan, Radwan;
- Birch, David G.;
- Zhao, Peiquan;
- Porto, Fernanda B.;
- Sallum, Juliana;
- Koenekoop, Robert K.;
- Sui, Ruifang;
- Chen, Rui
Publication type:
Article
Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297
By:
- Wambach, Jennifer A.;
- Stettner, Georg M.;
- Haack, Tobias B.;
- Writzl, Karin;
- Škofljanec, Andreja;
- Maver, Aleš;
- Munell, Francina;
- Ossowski, Stephan;
- Bosio, Mattia;
- Wegner, Daniel J.;
- Shinawi, Marwan;
- Baldridge, Dustin;
- Alhaddad, Bader;
- Strom, Tim M.;
- Grange, Dorothy K.;
- Wilichowski, Ekkehard;
- Troxell, Robin;
- Collins, James;
- Warner, Barbara B.;
- Schmidt, Robert E.
Publication type:
Article
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1592, doi. 10.1002/humu.23312
By:
- Oud, Manon S.;
- Ramos, Liliana;
- O'Bryan, Moira K.;
- McLachlan, Robert I.;
- Okutman, Özlem;
- Viville, Stephane;
- Vries, Petra F.;
- Smeets, Dominique F.C.M.;
- Lugtenberg, Dorien;
- Hehir‐Kwa, Jayne Y.;
- Gilissen, Christian;
- de Vorst, Maartje;
- Vissers, Lisenka E.L.M.;
- Hoischen, Alexander;
- Meijerink, Aukje M.;
- Fleischer, Kathrin;
- Veltman, Joris A.;
- Noordam, Michiel J.
Publication type:
Article
Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1485, doi. 10.1002/humu.23299
By:
- Hendee, Kathryn;
- Wang, Lauren Weiping;
- Reis, Linda M.;
- Rice, Gregory M.;
- Apte, Suneel S.;
- Semina, Elena V.
Publication type:
Article
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1454, doi. 10.1002/humu.23313
By:
- Wiel, Laurens;
- Venselaar, Hanka;
- Veltman, Joris A.;
- Vriend, Gert;
- Gilissen, Christian
Publication type:
Article

Found: 21