Works matching IS 00034800 AND DT 2013 AND VI 77 AND IP 5

Results: 9

Corrigendum.

Published in:: 2013
Publication type:: Erratum

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 435, doi. 10.1111/ahg.12031

By:

Nurputra, Dian K.;
Lai, Poh San;
Harahap, Nur Imma F.;
Morikawa, Satoru;
Yamamoto, Tomoto;
Nishimura, Noriyuki;
Kubo, Yuji;
Takeuchi, Atsuko;
Saito, Toshio;
Takeshima, Yasuhiro;
Tohyama, Yumi;
Tay, Stacey KH;
Low, Poh Sim;
Saito, Kayoko;
Nishio, Hisahide

Publication type:

Article

Novel LDLR Variants in Patients with Familial Hypercholesterolemia: In Silico Analysis as a Tool to Predict Pathogenic Variants in Children and Their Families.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 426, doi. 10.1111/ahg.12032

By:

Mollaki, Vasiliki;
Progias, Pavlos;
Drogari, Euridiki

Publication type:

Article

Post-Genome-Wide Association Study Challenges for Lipid Traits: Describing Age as a Modifier of Gene-Lipid Associations in the Population Architecture Using Genomics and Epidemiology (PAGE) Study.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 416, doi. 10.1111/ahg.12027

By:

Dumitrescu, Logan;
Carty, Cara L.;
Franceschini, Nora;
Hindorff, Lucia A.;
Cole, Shelley A.;
Bůžková, Petra;
Schumacher, Fredrick R.;
Eaton, Charles B.;
Goodloe, Robert J.;
Duggan, David J.;
Haessler, Jeff;
Cochran, Barbara;
Henderson, Brian E.;
Cheng, Iona;
Johnson, Karen C.;
Carlson, Chris S.;
Love, Shelly‐Ann;
Brown‐Gentry, Kristin;
Nato, Alejandro Q.;
Quibrera, Miguel

Publication type:

Article

Phenotype versus Genotype Methods for Copy Number Variant Analysis of Glutathione S-Transferases M1.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 409, doi. 10.1111/ahg.12025

By:

Piacentini, Sara;
Polimanti, Renato;
Angelis, Flavio;
Iorio, Andrea;
Fuciarelli, Maria

Publication type:

Article

Variation at Diabetes- and Obesity-Associated Loci May Mirror Neutral Patterns of Human Population Diversity and Diabetes Prevalence in India.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 392, doi. 10.1111/ahg.12028

By:

Raj, Srilakshmi M.;
Halebeedu, Pradeep;
Kadandale, Jayarama S;
Mirazon Lahr, Marta;
Gallego Romero, Irene;
Yadhav, Jamuna R.;
Iliescu, Mircea;
Rai, Niraj;
Crivellaro, Federica;
Chaubey, Gyaneshwer;
Villems, Richard;
Thangaraj, Kumarasamy;
Muniyappa, Kalappagowda;
Chandra, H. Sharat;
Kivisild, Toomas

Publication type:

Article

Common Variants in KCNQ1 Confer Increased Risk of Type 2 Diabetes and Contribute to the Diabetic Epidemic in East Asians: A Replication and Meta-Analysis.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 380, doi. 10.1111/ahg.12029

By:

Wang, Haoran;
Miao, Kun;
Zhao, Jinzhao;
Liu, Lei;
Cui, Guanglin;
Chen, Chen;
Wang, Dao Wen;
Ding, Hu

Publication type:

Article

Thirty-Nine Novel Neurofibromatosis 1 (NF1) Gene Mutations Identified in Slovak Patients.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 364, doi. 10.1111/ahg.12026

By:

Nemethova, Martina;
Bolcekova, Anna;
Ilencikova, Denisa;
Durovcikova, Darina;
Hlinkova, Katarina;
Hlavata, Anna;
Kovacs, Laszlo;
Kadasi, Ludevit;
Zatkova, Andrea

Publication type:

Article

C90RF72 Intermediate Repeat Copies Are a Significant Risk Factor for Parkinson Disease.

Published in:

Annals of Human Genetics, 2013, v. 77, n. 5, p. 351, doi. 10.1111/ahg.12033

By:

Nuytemans, Karen;
Bademci, Güney;
Kohli, Martin M.;
Beecham, Gary W.;
Wang, Liyong;
Young, Juan I.;
Nahab, Fatta;
Martin, Eden R.;
Gilbert, John R.;
Benatar, Michael;
Haines, Jonathan L.;
Scott, William K.;
Züchner, Stephan;
Pericak‐Vance, Margaret A.;
Vance, Jeffery M.

Publication type:

Article