Volume 134; Issue 9

Main
Human Genetics
Volume 134; Issue 9

Human Genetics

Volume 134; Issue 9

1

Mutation ofATF6causes autosomal recessive achromatopsia

Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Saqib, Muhammad Arif Nadeem, Zulfiqar, Fareeha, Lee, Kwanghyuk, Ashraf, Naeem Mahmood, Ullah, Ehsan, Wang, Xin, Sajid, Sundus, Khan, Falak Sher, Amin-ud-D

Journal:

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

2

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

Yavarna, Tarunashree, Al-Dewik, Nader, Al-Mureikhi, Mariam, Ali, Rehab, Al-Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, Lakhani, Shenela, AlMulla, Mariam, Nawaz, Zafar, Vitazka, Patrik, Alkuraya,

Journal:

Year:

2015

Language:

english

File:

PDF, 537 KB

english, 2015

3

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease

Kaliszewska, Magdalena, Kruszewski, Jakub, Kierdaszuk, Biruta, Kostera-Pruszczyk, Anna, Nojszewska, Monika, Łusakowska, Anna, Vizueta, Joel, Sabat, Dorota, Lutyk, Dorota, Lower, Michał, Piekutowska-Ab

Journal:

Year:

2015

Language:

english

File:

PDF, 780 KB

english, 2015

4

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

Shamia, Ahmed, Shaheen, Ranad, Sabbagh, Nouran, Almoisheer, Agaadir, Halees, Anason, Alkuraya, Fowzan S.

Journal:

Year:

2015

Language:

english

File:

PDF, 431 KB

english, 2015

5

Whole-exome sequencing identifies novelECHS1mutations in Leigh syndrome

Tetreault, Martine, Fahiminiya, Somayyeh, Antonicka, Hana, Mitchell, Grant A., Geraghty, Michael T., Lines, Matthew, Boycott, Kym M., Shoubridge, Eric A., Mitchell, John J., Michaud, Jacques L., Majew

Journal:

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

6

Mosaic maternal ancestry in the Great Lakes region of East Africa

Gomes, Verónica, Pala, Maria, Salas, Antonio, Álvarez-Iglesias, Vanesa, Amorim, António, Gómez-Carballa, Alberto, Carracedo, Ángel, Clarke, Douglas J., Hill, Catherine, Mormina, Maru, Shaw, Marie-Anne

Journal:

Year:

2015

Language:

english

File:

PDF, 1.62 MB

english, 2015

7

Compound heterozygousNOTCH1mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome

Theis, Jeanne L., Hrstka, Sybil C. L., Evans, Jared M., O’Byrne, Megan M., de Andrade, Mariza, O’Leary, Patrick W., Nelson, Timothy J., Olson, Timothy M.

Journal:

Year:

2015

Language:

english

File:

PDF, 857 KB

english, 2015

8

Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events

Nishida, Atsushi, Minegishi, Maki, Takeuchi, Atsuko, Awano, Hiroyuki, Niba, Emma Tabe Eko, Matsuo, Masafumi

Journal:

Year:

2015

Language:

english

File:

PDF, 1.42 MB

english, 2015

9

KIRandHLAunder pressure: evidences of coevolution across worldwide populations

Augusto, Danillo G., Petzl-Erler, Maria Luiza

Journal:

Year:

2015

Language:

english

File:

PDF, 852 KB

english, 2015

10

Louanne Hudgins, Helga V. Toriello, Gregory M. Enns and H. Eugene Hoyme (eds): Signs and Symptoms of Genetic Conditions, a Handbook

Journal:

Year:

2015

Language:

english

File:

PDF, 351 KB

english, 2015

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