Volume 32; Issue 1

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Human Mutation
Volume 32; Issue 1

Human Mutation

Volume 32; Issue 1

1

pfSNP: An integrated potentially functional SNP resource that facilitates hypotheses generation through knowledge syntheses

Jingbo Wang, Mostafa Ronaghi, Samuel S. Chong, Caroline G.L. Lee

Journal:

Year:

2011

Language:

english

File:

PDF, 172 KB

english, 2011

2

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, D

Journal:

Year:

2011

File:

PDF, 577 KB

2011

3

MET mutations in cancers of unknown primary origin (CUPs)

Giulia M. Stella, Silvia Benvenuti, Daniela Gramaglia, Aldo Scarpa, Anna Tomezzoli, Paola Cassoni, Rebecca Senetta, Tiziana Venesio, Ernesto Pozzi, Alberto Bardelli, Paolo M. Comoglio

Journal:

Year:

2011

Language:

english

File:

PDF, 278 KB

english, 2011

4

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

Steven J. Lubbe, Alan M. Pittman, Cornelis Matijssen, Philip Twiss, Bianca Olver, Amy Lloyd, Mobshra Qureshi, Nathan Brown, Emma Nye, Gordon Stamp, Julian Blagg, Richard S. Houlston

Journal:

Year:

2011

Language:

english

File:

PDF, 376 KB

english, 2011

5

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, Ion C. Cirstea, Christian Peter Kratz, Martin Zenker, Alfred Wittinghofer, Mohammad Reza Ahmadian

Journal:

Year:

2011

Language:

english

File:

PDF, 600 KB

english, 2011

6

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups

Anita Kloss-Brandstätter, Dominic Pacher, Sebastian Schönherr, Hansi Weissensteiner, Robert Binna, Günther Specht, Florian Kronenberg

Journal:

Year:

2011

Language:

english

File:

PDF, 488 KB

english, 2011

7

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Céline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, Sourour Mansour, Philippe Guigue, Sahben Masmoudi, Elodie Bal, Nicolas Chassaing, Marie-Claire Vincent, Géraldine Viot, François Clauss, Marie-Céci

Journal:

Year:

2011

Language:

english

File:

PDF, 258 KB

english, 2011

8

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Karin Frank-Raue, Lisa A. Rybicki, Zoran Erlic, Heiko Schweizer, Aurelia Winter, Ioana Milos, Sergio P.A. Toledo, Rodrigo A. Toledo, Marcos R. Tavares, Maria Alevizaki, Caterina Mian, Heide Siggelkow,

Journal:

Year:

2011

Language:

english

File:

PDF, 239 KB

english, 2011

9

A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family

Binbin Wang, Changhong Yu, Yi-Bo Xi, Hong-Chen Cai, Jing Wang, Sirui Zhou, Shiyi Zhou, Yi Wu, Yong-Bin Yan, Xu Ma, Lixin Xie

Journal:

Year:

2011

Language:

english

File:

PDF, 206 KB

english, 2011

10

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

Carles Garcia-Linares, Juana Fernández-Rodríguez, Ernest Terribas, Jaume Mercadé, Eva Pros, Llúcia Benito, Yolanda Benavente, Gabriel Capellà, Anna Ravella, Ignacio Blanco, Hildegard Kehrer-Sawatzki,

Journal:

Year:

2011

Language:

english

File:

PDF, 742 KB

english, 2011

11

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes, Janet Koster, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Year:

2011

Language:

english

File:

PDF, 243 KB

english, 2011

12

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

Jochen Reiss, Rita Hahnewald

Journal:

Year:

2011

Language:

english

File:

PDF, 304 KB

english, 2011

13

PRO-MINE: A Bioinformatics Repository and Analytical Tool for TARDBP Mutations

Sofia Pinto, Kristian Vlahoviček, Emanuele Buratti

Journal:

Year:

2011

Language:

english

File:

PDF, 583 KB

english, 2011

14

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

Tracy Busse, John M. Graham Jr., Gerald Feldman, Juan Perin, Anne Catherwood, Robert Knowlton, Eric F. Rappaport, Beverly Emanuel, Deborah A. Driscoll, Sulagna C. Saitta

Journal:

Year:

2011

Language:

english

File:

PDF, 521 KB

english, 2011

15

Statistical inference of allelic imbalance from transcriptome data

Michael Nothnagel, Andreas Wolf, Alexander Herrmann, Karol Szafranski, Inga Vater, Mario Brosch, Klaus Huse, Reiner Siebert, Matthias Platzer, Jochen Hampe, Michael Krawczak

Journal:

Year:

2011

Language:

english

File:

PDF, 224 KB

english, 2011

16

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

George P. Patrinos, Jumana Al Aama, Aida Al Aqeel, Fahd Al-Mulla, Joseph Borg, Andrew Devereux, Alex E. Felice, Finlay Macrae, Makia J. Marafie, Michael B. Petersen, Ming Qi, Rajkumar S. Ramesar, Joel

Journal:

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

17

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Gladys Ho, Atsushi Yonezawa, Satohiro Masuda, Ken-ichi Inui, Keow G. Sim, Kevin Carpenter, Rikke K.J. Olsen, John J. Mitchell, William J. Rhead, Gregory Peters, John Christodoulou

Journal:

Year:

2011

Language:

english

File:

PDF, 353 KB

english, 2011

18

Legius syndrome in fourteen families

Ellen Denayer, Magdalena Chmara, Hilde Brems, Anneke Maat Kievit, Yolande van Bever, Ans MW Van den Ouweland, Rick Van Minkelen, Arja de Goede-Bolder, Rianne Oostenbrink, Phillis Lakeman, Eline Beert,

Journal:

Year:

2011

Language:

english

File:

PDF, 644 KB

english, 2011

19

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants

Minttu Kansikas, Reetta Kariola, Minna Nyström

Journal:

Year:

2011

Language:

english

File:

PDF, 295 KB

english, 2011

20

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

Sophie Monnot, Nadine Gigarel, David C. Samuels, Philippe Burlet, Laetitia Hesters, Nelly Frydman, René Frydman, Violaine Kerbrat, Benoit Funalot, Jelena Martinovic, Alexandra Benachi, Josué Feingold,

Journal:

Year:

2011

Language:

english

File:

PDF, 219 KB

english, 2011

21

“Mutation in brief” online articles discontinued—introducing “brief reports”

Mark H. Paalman, Garry R. Cutting, Richard G.H. Cotton

Journal:

Year:

2011

Language:

english

File:

PDF, 70 KB

english, 2011

22

Stepwise Functional Assessment of Unclassified DNA Variants

Maurizio Genuardi

Journal:

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

23

Evaluating Mutant mtDNA Tissue Distribution in Early Fetal Development

Journal:

Year:

2011

Language:

english

File:

PDF, 68 KB

english, 2011

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