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Bi-allelic loss-of-function variants in TMEM147 cause moder..:
Thomas, Quentin
;
Motta, Marialetizia
;
Gautier, Thierry
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1909-1922 , 2022
Link:
https://doi.org/10.1016/j.ajhg.2022.08.008
RT Journal T1
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2022.08.008&Exemplar=1&LAN=DE A1 Thomas, Quentin A1 Motta, Marialetizia A1 Gautier, Thierry A1 Zaki, Maha S. A1 Ciolfi, Andrea A1 Paccaud, Julien A1 Girodon, François A1 Boespflug-Tanguy, Odile A1 Besnard, Thomas A1 Kerkhof, Jennifer A1 McConkey, Haley A1 Masson, Aymeric A1 Denommé-Pichon, Anne-Sophie A1 Cogné, Benjamin A1 Trochu, Eva A1 Vignard, Virginie A1 El It, Fatima A1 Rodan, Lance H. A1 Alkhateeb, Mohammad Ayman A1 Jamra, Rami Abou A1 Duplomb, Laurence A1 Tisserant, Emilie A1 Duffourd, Yannis A1 Bruel, Ange-Line A1 Jackson, Adam A1 Banka, Siddharth A1 McEntagart, Meriel A1 Saggar, Anand A1 Gleeson, Joseph G. A1 Sievert, David PB Elsevier BV YR 2022 SN 0002-9297 JF The American Journal of Human Genetics VO 109 IS 10 SP 1909 OP 1922 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2022.08.008 DO https://doi.org/10.1016/j.ajhg.2022.08.008 SF ELIB - SuUB Bremen
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