Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Chelsea Kois"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101310- (2024)
Externí odkaz:
https://doaj.org/article/61e1dd29ff2841d7b700254b2f268999
Autor:
Lynn Pais, Anna Pelet, Wilhelmina S. Kerstjens-Frederikse, Christine Bole-Feysot, Yunia Sribudiani, Stanislas Lyonnet, Natasha Shur, Valérie Cormier-Daire, Louise Galmiche, Cécile Masson, Christopher T. Gordon, Chelsea Kois, Céline Huber, John A. Pugh, Simon Sadedin, Thuy-Linh Le, Nicolas Goudin, Tania Attié-Bitach, Susan M. White, Tiong Yang Tan, Geneviève Baujat, Valérie Serre, Xiaomin Dong, Mohammed Zarhrate, Patrick Nitschke, Jeanne Amiel, John Christodoulou, Frans W. Verheijen, Sophie Thomas, R Hofstra, Salima El Chehadeh, Valerie Mayne
Publikováno v:
American Journal of Human Genetics, 106(6), 779-792. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press
The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue maintenance and renewal. A unique feature of the vertebrate Hh pathway is that signal transduction requires the primary cil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1003cc76f77d065c02f6683353a2e2fc
https://hdl.handle.net/11370/f3efaa11-0ef7-4727-9a41-8f2f87fed566
https://hdl.handle.net/11370/f3efaa11-0ef7-4727-9a41-8f2f87fed566
Autor:
Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni
Publikováno v:
Neurology
Background and ObjectivesSpinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee873a2680827d73e98bae9d821331c5
https://pubmed.ncbi.nlm.nih.gov/35835557
https://pubmed.ncbi.nlm.nih.gov/35835557
Autor:
Christine M. Eng, Judy Holtzman, Kathryn G. Miller, Jignesh Chandarana, James R. Lupski, Alicia Braxton, Shalini N. Jhangiani, Francesco Vetrini, Chelsea Kois, Donna M. Muzny, Virginia Sack, Richard A. Gibbs, Mohammad K. Eldomery, Asha Rijhsinghani, Zeynep Coban Akdemir, Neil A. Hanchard, John W. Belmont, Natasha Shur, Mahshid S. Azamian, Jill A. Rosenfeld, Tamar Harel, Lisa C.A. D'Alessandro, Yan Ding, Yaping Yang
Publikováno v:
American journal of human genetics. 99(4)
Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad7599106bd4f8df9424697b3fbea1b
https://pubmed.ncbi.nlm.nih.gov/27616478
https://pubmed.ncbi.nlm.nih.gov/27616478