Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Autor: Kurolap, Alina, Kreuder, Florian, Gonzaga-Jauregui, Claudia, Duvdevani, Morasha Plesser, Harel, Tamar, Tammer, Luna, Xin, Baozhong, Bakhtiari, Somayeh, Rice, James, van Eyk, Clare L., Gecz, Jozef, Mah, Jean K., Atkinson, Derek, Cope, Heidi, Sullivan, Jennifer A., Douek, Alon M., Colquhoun, Daniel, Henry, Jason, Wlodkowic, Donald, Parman, Yesim, Candayan, Ayşe, Kocasoy-Orhan, Elif, Ilivitzki, Anat, Soudry, Shiri, Leibu, Rina, Glaser, Fabian, Sency, Valerie, Ast, Gil, Shashi, Vandana, Fahey, Michael C., Battaloğlu, Esra, Jordanova, Albena, Meiner, Vardiella, Innes, A. Micheil, Wang, Heng, Elpeleg, Orly, Kruer, Michael C., Kaslin, Jan, Baris Feldman, Hagit

Publikováno v: In The American Journal of Human Genetics 3 March 2022 109(3):518-532

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De-identified data quality assessment approaches by data vendors who license data to healthcare and life sciences researchers.

Autor: Erwin Johnson C; Policy Evidence Research (Global Market Access), Merck & Co., Inc., Kenilworth, New Jersey, USA., Colquhoun D; Customer Research, Frost & Sullivan, Toronto, Ontario, Canada., Ruppar DA; Health & Life Sciences, Frost & Sullivan, San Antonio, Texas, USA., Vetter S; Customer Research, Frost & Sullivan, San Antonio, Texas, USA.

Publikováno v: JAMIA open [JAMIA Open] 2022 Nov 02; Vol. 5 (4), pp. ooac093. Date of Electronic Publication: 2022 Nov 02 (Print Publication: 2022).