Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Carina Emery"'
Autor:
Jennifer N. Partlow, Xuyu Cai, Fowzan S. Alkuraya, Amal Y. Kentab, Yuanyi Feng, Brenda J. Barry, Carina Emery, Christopher A. Walsh, Jillian M. Felie, Mohammed S. Al-Dosari, Ganeshwaran H. Mochida, Generoso G. Gascon, Ranad Shaheen, Mohammad Jan, R. Sean Hill
Publikováno v:
The American Journal of Human Genetics. 88(5):536-547
Genes disrupted in human microcephaly (meaning "small brain") define key regulators of neural progenitor proliferation and cell-fate specification. In comparison, genes mutated in human lissencephaly (lissos means smooth and cephalos means brain) hig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::156cacd95c6d07136ac4d94e6df55d2b
Autor:
Christine J. DiDonato, Vincent Jacques, Megerditch Kiledjian, Sophie Bail, Carina Emery, Christopher R. Heier, Nancy L. Kuntz, Michael Jorgensen, Courtenay B. Barlow, Madel Durens, James R. Rusche, Rocky G. Gogliotti, Jasbir Singh, Jill Jarecki, Herminio J. Cardona, Heather L. Plasterer, Bing Xia
Publikováno v:
Human molecular genetics. 22(20)
Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein due to the functional loss of the SMN1 gene and the inability of its paralog, SMN2, to fully compensate due to reduced exon 7 splicing efficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b8ef4df4dcbeab176c46a84c0b72f7
https://pubmed.ncbi.nlm.nih.gov/23736298
https://pubmed.ncbi.nlm.nih.gov/23736298
Autor:
Carina Emery, Courtenay B. Barlow, Rocky G. Gogliotti, Herminio J. Cardona, Christine J. DiDonato
Publikováno v:
C67. TRANSLATIONAL 'OMICS' DISCOVERIES IN LUNG DISEASE.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80166654cc1e713db95462cec32798be
https://doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a4910
https://doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a4910