Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 11

Results: 19

Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1189, doi. 10.1038/ejhg.2012.63

By:

Hong, Kui;
Hu, Jinzhu;
Yu, Jianhua;
Brugada, Ramon

Publication type:

Article

Attitudes of general practitioners and midwives towards ethnicity-based haemoglobinopathy-carrier screening.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1112, doi. 10.1038/ejhg.2012.72

By:

Jans, Suze MPJ;
de Jonge, Ank;
Henneman, Lidewij;
Cornel, Martina C;
Lagro-Janssen, Antoinette LM

Publication type:

Article

Pathway-based genome-wide association analysis of coronary heart disease identifies biologically important gene sets.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1168, doi. 10.1038/ejhg.2012.66

By:

de las Fuentes, Lisa;
Yang, Wei;
Dávila-Román, Victor G;
Charles Gu, C

Publication type:

Article

Mini-haplotypes as lineage informative SNPs and ancestry inference SNPs.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1148, doi. 10.1038/ejhg.2012.69

By:

Pakstis, Andrew J;
Fang, Rixun;
Furtado, Manohar R;
Kidd, Judith R;
Kidd, Kenneth K

Publication type:

Article

Meta-analysis of genetic association studies under heterogeneity.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1174, doi. 10.1038/ejhg.2012.75

By:

Neupane, Binod;
Loeb, Mark;
Anand, Sonia S;
Beyene, Joseph

Publication type:

Article

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1197, doi. 10.1038/ejhg.2012.78

By:

Vengoechea, Jaime;
Parikh, Aditi S;
Zhang, Shulin;
Tassone, Flora

Publication type:

Article

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1134, doi. 10.1038/ejhg.2012.77

By:

Al-Haggar, Mohammad;
Madej-Pilarczyk, Agnieszka;
Kozlowski, Lukasz;
Bujnicki, Janusz M;
Yahia, Sohier;
Abdel-Hadi, Dina;
Shams, Amany;
Ahmad, Nermin;
Hamed, Sahar;
Puzianowska-Kuznicka, Monika

Publication type:

Article

Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1155, doi. 10.1038/ejhg.2012.65

By:

Piras, Ignazio Stefano;
De Montis, Antonella;
Calò, Carla Maria;
Marini, Monica;
Atzori, Manuela;
Corrias, Laura;
Sazzini, Marco;
Boattini, Alessio;
Vona, Giuseppe;
Contu, Licinio

Publication type:

Article

Quality assurance practices in Europe: a survey of molecular genetic testing laboratories.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1118, doi. 10.1038/ejhg.2012.125

By:

Berwouts, Sarah;
Fanning, Katrina;
Morris, Michael A;
Barton, David E;
Dequeker, Elisabeth

Publication type:

Article

Authors muscle in on history: The History of a Genetic Disease Duchenne Muscular Dystrophy or Meryon's disease.

Published in:

2012

By:

Kini, Usha;
Cilliers, Deirdre

Publication type:

Book Review

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1193, doi. 10.1038/ejhg.2012.76

By:

Penttilä, Sini;
Jokela, Manu;
Hackman, Peter;
Maija Saukkonen, Anna;
Toivanen, Jari;
Udd, Bjarne

Publication type:

Article

Toward a roadmap in global biobanking for health.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1105, doi. 10.1038/ejhg.2012.96

By:

Harris, Jennifer R;
Burton, Paul;
Knoppers, Bartha Maria;
Lindpaintner, Klaus;
Bledsoe, Marianna;
Brookes, Anthony J;
Budin-Ljøsne, Isabelle;
Chisholm, Rex;
Cox, David;
Deschênes, Mylène;
Fortier, Isabel;
Hainaut, Pierre;
Hewitt, Robert;
Kaye, Jane;
Litton, Jan-Eric;
Metspalu, Andres;
Ollier, Bill;
Palmer, Lyle J;
Palotie, Aarno;
Pasterk, Markus

Publication type:

Article

Deeper than the skin: Genetic Skin Disorders.

Published in:

2012

By:

Ajith Kumar, Vadakke Kanakath

Publication type:

Book Review

CNVs leading to fusion transcripts in individuals with autism spectrum disorder.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1141, doi. 10.1038/ejhg.2012.73

By:

Holt, Richard;
Sykes, Nuala H;
Conceição, Inês C;
Cazier, Jean-Baptiste;
Anney, Richard JL;
Oliveira, Guiomar;
Gallagher, Louise;
Vicente, Astrid;
Monaco, Anthony P;
Pagnamenta, Alistair T

Publication type:

Article

Symptom dimensions as alternative phenotypes to address genetic heterogeneity in schizophrenia and bipolar disorder.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1182, doi. 10.1038/ejhg.2012.67

By:

Labbe, Aurélie;
Bureau, Alexandre;
Moreau, Isabel;
Roy, Marc-André;
Chagnon, Yvon;
Maziade, Michel;
Merette, Chantal

Publication type:

Article

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1127, doi. 10.1038/ejhg.2012.50

By:

Lewis, Celine;
Hill, Melissa;
Skirton, Heather;
Chitty, Lyn S

Publication type:

Article

Can (should) molecular diagnostic labs improve the quality of their services?

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1103, doi. 10.1038/ejhg.2012.126

By:

Cassiman, Jean-Jacques

Publication type:

Article

Black Swans and Bell Curves.

Published in:

2012

By:

Jennings, Barbara A

Publication type:

Book Review

Community of protein complexes impacts disease association.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1162, doi. 10.1038/ejhg.2012.74

By:

Wang, Qianghu;
Liu, Weisha;
Ning, Shangwei;
Ye, Jingrun;
Huang, Teng;
Li, Yan;
Wang, Peng;
Shi, Hongbo;
Li, Xia

Publication type:

Article