Volume 92; Issue 2

The American Journal of Human Genetics

Volume 92; Issue 2

1

Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

Srinivasan, Anupama, Bianchi, Diana W., Huang, Hui, Sehnert, Amy J., Rava, Richard P.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 937 KB

english, 2013

2

Ancient Substructure in Early mtDNA Lineages of Southern Africa

Barbieri, Chiara, Vicente, Mário, Rocha, Jorge, Mpoloka, Sununguko W., Stoneking, Mark, Pakendorf, Brigitte

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 381 KB

english, 2013

3

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Hammer, Monia B., Eleuch-Fayache, Ghada, Schottlaender, Lucia V., Nehdi, Houda, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Sailer, Anna, Liu, Guoxiang, Mistry, Pramod

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 601 KB

english, 2013

4

LRIG2 Mutations Cause Urofacial Syndrome

Stuart, Helen M., Roberts, Neil A., Burgu, Berk, Daly, Sarah B., Urquhart, Jill E., Bhaskar, Sanjeev, Dickerson, Jonathan E., Mermerkaya, Murat, Silay, Mesrur Selcuk, Lewis, Malcolm A., Olondriz, M. B

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 938 KB

english, 2013

5

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

Girirajan, Santhosh, Dennis, Megan Y., Baker, Carl, Malig, Maika, Coe, Bradley P., Campbell, Catarina D., Mark, Kenneth, Vu, Tiffany H., Alkan, Can, Cheng, Ze, Biesecker, Leslie G., Bernier, Raphael,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 953 KB

english, 2013

6

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

Fares-Taie, Lucas, Gerber, Sylvie, Chassaing, Nicolas, Clayton-Smith, Jill, Hanein, Sylvain, Silva, Eduardo, Serey, Margaux, Serre, Valérie, Gérard, Xavier, Baumann, Clarisse, Plessis, Ghislaine, Deme

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 316 KB

english, 2013

7

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

Amyere, Mustapha, Aerts, Virginie, Brouillard, Pascal, McIntyre, Brendan A.S., Duhoux, François P., Wassef, Michel, Enjolras, Odile, Mulliken, John B., Devuyst, Olivier, Antoine-Poirel, Hélène, Boon,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 964 KB

english, 2013

8

Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2

Moffatt, Pierre, Ben Amor, Mouna, Glorieux, Francis H., Roschger, Paul, Klaushofer, Klaus, Schwartzentruber, Jeremy A., Paterson, Andrew D., Hu, Pingzhao, Marshall, Christian, Fahiminiya, Somayyeh, Ma

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 761 KB

english, 2013

9

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 752 KB

english, 2013

10

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Böhm, Johann, Chevessier, Frédéric, De Paula, André Maues, Koch, Catherine, Attarian, Shahram, Feger, Claire, Hantaï, Daniel, Laforêt, Pascal, Ghorab, Karima, Vallat, Jean-Michel, Fardeau, Michel, Fig

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.12 MB

english, 2013

11

This Month in Genetics

Garber, Kathryn B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 44 KB

english, 2013

12

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

Ronchi, Dario, Di Fonzo, Alessio, Lin, Weiqiang, Bordoni, Andreina, Liu, Changwei, Fassone, Elisa, Pagliarani, Serena, Rizzuti, Mafalda, Zheng, Li, Filosto, Massimiliano, Ferrò, Maria Teresa, Ranieri,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 884 KB

english, 2013

13

Genetic Basis of Y-Linked Hearing Impairment

Wang, Qiuju, Xue, Yali, Zhang, Yujun, Long, Quan, Yang, Fengtang, Turner, Daniel J., Fitzgerald, Tomas, Ng, Bee Ling, Zhao, Yali, Chen, Yuan, Liu, Qingjie, Yang, Weiyan, Han, Dongyi, Quail, Michael A.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 674 KB

english, 2013

14

This Month in The Journal

Ratzel, Sarah, Cullinan, Sara B.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 42 KB

english, 2013

15

Common Genetic Risk Factors for Venous Thrombosis in the Chinese Population

Tang, Liang, Wang, Hua-Fang, Lu, Xuan, Jian, Xiao-Rong, Jin, Bi, Zheng, Hong, Li, Yi-Qing, Wang, Qing-Yun, Wu, Tang-Chun, Guo, Huan, Liu, Hui, Guo, Tao, Yu, Jian-Ming, Yang, Rui, Yang, Yan, Hu, Yu

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 408 KB

english, 2013

16

A Highly Unstable Recent Mutation in Human mtDNA

Duggan, Ana T., Stoneking, Mark

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 317 KB

english, 2013

17

Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta

Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 594 KB

english, 2013

18

Improved Detection of Common Variants Associated with Schizophrenia by Leveraging Pleiotropy with Cardiovascular-Disease Risk Factors

Andreassen, Ole A., Djurovic, Srdjan, Thompson, Wesley K., Schork, Andrew J., Kendler, Kenneth S., O’Donovan, Michael C., Rujescu, Dan, Werge, Thomas, van de Bunt, Martijn, Morris, Andrew P., McCarthy

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1006 KB

english, 2013

19

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски