Works matching IS 00034800 AND DT 2014 AND VI 78 AND IP 3

Results: 7

Complete Mitochondrial Genome Analysis and Clinical Documentation of a Five-Generational Indian Family with Mitochondrial 1555A>G Mutation and Postlingual Hearing Loss.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 3, p. 217, doi. 10.1111/ahg.12061

By:

Subathra, Mahalingam;
Selvakumari, Mathiyalagan;
Ramesh, Arabandi;
Ramakrishnan, Rajagopalan;
Karan, Kalpita Rashmi;
Kaur, Manpreet;
Manikandan, Mayakannan;
Srikumari Srisailapathy, C. R.

Publication type:

Article

Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 3, p. 195, doi. 10.1111/ahg.12058

By:

Albuquerque, David;
Estévez, Manuela Núñez;
Víbora, Pilar Beato;
Giralt, Plácida Sánchez;
Balsera, Aránzazu Margallo;
Cortés, Pedro Gil;
López, Mercedes Jiménez;
Luego, Luis Miguel;
Gervasini, Guillermo;
Hernández, Sergio Barroso;
Arroyo‐Díez, Javier;
Vacas, Manuel Arrobas;
Nóbrega, Clévio;
Manco, Licínio;
Rodríguez‐López, Raquel

Publication type:

Article

Effective Variant Detection by Targeted Deep Sequencing of DNA Pools: An Example from Parkinson's Disease.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 3, p. 243, doi. 10.1111/ahg.12060

By:

Pihlstrøm, Lasse;
Rengmark, Aina;
Bjørnarå, Kari Anne;
Toft, Mathias

Publication type:

Article

Surnames in Honduras: A Study of the Population of Honduras through Isonymy.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 3, p. 165, doi. 10.1111/ahg.12057

By:

Herrera Paz, Edwin Francisco;
Scapoli, Chiara;
Mamolini, Elisabetta;
Sandri, Massimo;
Carrieri, Alberto;
Rodriguez‐Larralde, Alvaro;
Barrai, Italo

Publication type:

Article

Maternal Genetic Heritage of Southeastern Europe Reveals a New Croatian Isolate and a Novel, Local Sub-Branching in the X2 Haplogroup.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 3, p. 178, doi. 10.1111/ahg.12056

By:

Šarac, Jelena;
Šarić, Tena;
Auguštin, Dubravka Havaš;
Jeran, Nina;
Kovačević, Lejla;
Cvjetan, Svjetlana;
Lewis, Ana Perinić;
Metspalu, Ene;
Reidla, Maere;
Novokmet, Natalija;
Vidovič, Maruška;
Nevajda, Branimir;
Glasnović, Anton;
Marjanović, Damir;
Missoni, Saša;
Villems, Richard;
Rudan, Pavao

Publication type:

Article

Update of the Spectrum of GJB2 Mutations in 107 Patients with Nonsyndromic Hearing Loss in the Fujian Population of China.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 3, p. 235, doi. 10.1111/ahg.12062

By:

Chen, Tianbin;
Jiang, Ling;
Liu, Can;
Shan, Hongyan;
Chen, Jing;
Yang, Bin;
Ou, Qishui

Publication type:

Article

Mutation Screening of the HGD Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence.

Published in:

Annals of Human Genetics, 2014, v. 78, n. 3, p. 155, doi. 10.1111/ahg.12055

By:

Sakthivel, Srinivasan;
Zatkova, Andrea;
Nemethova, Martina;
Surovy, Milan;
Kadasi, Ludevit;
Saravanan, Madurai P.

Publication type:

Article