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1 Ergebnisse
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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) su..:
Lines, Matthew A.
;
Goldenberg, Paula
;
Wong, Ashley
...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1667-1675 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62673
RT Journal T1
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62673&Exemplar=1&LAN=DE A1 Lines, Matthew A. A1 Goldenberg, Paula A1 Wong, Ashley A1 Srivastava, Siddharth A1 Bayat, Allan A1 Hove, Hanne A1 Karstensen, Helena Gásdal A1 Anyane‐Yeboa, Kwame A1 Liao, Jun A1 Jiang, Nan A1 May, Alison A1 Guzman, Edwin A1 Morleo, Manuela A1 D'Arrigo, Stefano A1 Ciaccio, Claudia A1 Pantaleoni, Chiara A1 Castello, Raffaele A1 McKee, Shane A1 Ong, Jinfon A1 Zibdeh‐Lough, Hana A1 Tran‐Mau‐Them, Frederic A1 Gerasimenko, Anna A1 Heron, Delphine A1 Keren, Boris A1 Margot, Henri A1 de Sainte Agathe, Jean‐Madeleine A1 Burglen, Lydie A1 Voets, Thomas A1 Vriens, Joris A1 Innes, A. Micheil PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 6 SP 1667 OP 1675 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62673 DO https://doi.org/10.1002/ajmg.a.62673 SF ELIB - SuUB Bremen
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