Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 2

Results: 14

Issue Information.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 123, doi. 10.1002/humu.23079
Publication type:
Article
The Human Serotonin Type 3 Receptor Gene ( HTR3A-E) Allelic Variant Database.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 137, doi. 10.1002/humu.23136
By:
- Celli, Jacopo;
- Rappold, Gudrun;
- Niesler, Beate
Publication type:
Article
Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 226, doi. 10.1002/humu.23137
By:
- Weren, Robbert D.A.;
- Mensenkamp, Arjen R.;
- Simons, Michiel;
- Eijkelenboom, Astrid;
- Sie, Aisha S.;
- Ouchene, Hicham;
- Asseldonk, Monique;
- Gomez‐Garcia, Encarna B.;
- Blok, Marinus J.;
- Hullu, Joanne A.;
- Nelen, Marcel R.;
- Hoischen, Alexander;
- Bulten, Johan;
- Tops, Bastiaan B.J.;
- Hoogerbrugge, Nicoline;
- Ligtenberg, Marjolijn J.L.
Publication type:
Article
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 160, doi. 10.1002/humu.23138
By:
- Yuste‐Checa, Patricia;
- Brasil, Sandra;
- Gámez, Alejandra;
- Underhaug, Jarl;
- Desviat, Lourdes R;
- Ugarte, Magdalena;
- Pérez‐Cerdá, Celia;
- Martinez, Aurora;
- Pérez, Belén
Publication type:
Article
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 152, doi. 10.1002/humu.23139
By:
- Rendu, John;
- Montjean, Rodrick;
- Coutton, Charles;
- Suri, Mohnish;
- Chicanne, Gaetan;
- Petiot, Anne;
- Brocard, Julie;
- Grunwald, Didier;
- Pietri Rouxel, France;
- Payrastre, Bernard;
- Lunardi, Joel;
- Dorseuil, Olivier;
- Marty, Isabelle;
- Fauré, Julien
Publication type:
Article
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 169, doi. 10.1002/humu.23141
By:
- Seifi, Morteza;
- Footz, Tim;
- Taylor, Sherry A. M.;
- Walter, Michael A.
Publication type:
Article
How to Define Pathogenicity, Health, and Disease?
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 129, doi. 10.1002/humu.23144
By:
- Vihinen, Mauno
Publication type:
Article
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 148, doi. 10.1002/humu.23145
By:
- Matalonga, Leslie;
- Bravo, Miren;
- Serra‐Peinado, Carla;
- García‐Pelegrí, Elisabeth;
- Ugarteburu, Olatz;
- Vidal, Silvia;
- Llambrich, Maria;
- Quintana, Ester;
- Fuster‐Jorge, Pedro;
- Gonzalez‐Bravo, Maria Nieves;
- Beltran, Sergi;
- Dopazo, Joaquin;
- Garcia‐Garcia, Francisco;
- Foulquier, François;
- Matthijs, Gert;
- Mills, Philippa;
- Ribes, Antonia;
- Egea, Gustavo;
- Briones, Paz;
- Tort, Frederic
Publication type:
Article
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 180, doi. 10.1002/humu.23146
By:
- Nilsson, Daniel;
- Pettersson, Maria;
- Gustavsson, Peter;
- Förster, Alisa;
- Hofmeister, Wolfgang;
- Wincent, Josephine;
- Zachariadis, Vasilios;
- Anderlid, Britt‐Marie;
- Nordgren, Ann;
- Mäkitie, Outi;
- Wirta, Valtteri;
- Käller, Max;
- Vezzi, Francesco;
- Lupski, James R;
- Nordenskjöld, Magnus;
- Syk Lundberg, Elisabeth;
- Carvalho, Claudia M. B.;
- Lindstrand, Anna
Publication type:
Article
A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 204, doi. 10.1002/humu.23147
By:
- Zhang, Chaolin;
- Shen, Yufeng
Publication type:
Article
Human RECQ Helicase Pathogenic Variants, Population Variation and 'Missing' Diseases.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 193, doi. 10.1002/humu.23148
By:
- Fu, Wenqing;
- Ligabue, Alessio;
- Rogers, Kai J.;
- Akey, Joshua M.;
- Monnat, Raymond J.
Publication type:
Article
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 216, doi. 10.1002/humu.23149
By:
- Parrini, Elena;
- Marini, Carla;
- Mei, Davide;
- Galuppi, Anna;
- Cellini, Elena;
- Pucatti, Daniela;
- Chiti, Laura;
- Rutigliano, Domenico;
- Bianchini, Claudia;
- Virdò, Simona;
- Vita, Dalila;
- Bigoni, Stefania;
- Barba, Carmen;
- Mari, Francesco;
- Montomoli, Martino;
- Pisano, Tiziana;
- Rosati, Anna;
- Guerrini, Renzo
Publication type:
Article
Congenital Disorders of Glycosylation: A Pipeline to Treatment?
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 127, doi. 10.1002/humu.23156
By:
- Gilfix, Brian M.
Publication type:
Article
Cover Image, Volume 38, Issue 2.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. i, doi. 10.1002/humu.23167
By:
- Seifi, Morteza;
- Footz, Tim;
- Taylor, Sherry A. M.;
- Walter, Michael A.
Publication type:
Article