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Bi-allelic loss-of-function variants in TMEM147 cause moder..:
Thomas, Quentin
;
Motta, Marialetizia
;
Gautier, Thierry
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008. , 2022
Link:
https://univ-rennes.hal.science/hal-03790588
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=base-ftunivnantes:oai:HAL:hal-03790588v1&Exemplar=1&LAN=DE A1 Thomas, Quentin A1 Motta, Marialetizia A1 Gautier, Thierry A1 Zaki, Maha 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 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 A1 Sievert, David A1 Bae, Hyunwoo A1 Lee, Beom Hee A1 Kwon, Kisang A1 Seo, Go Hun A1 Lee, Hane A1 Saeed, Anjum A1 Anjum, Nadeem A1 Cheema, Huma A1 Alawbathani, Salem A1 Khan, Imran A1 Pinto-Basto, Jorge A1 Teoh, Joyce A1 Wong, Jasmine A1 Sahari, Umar Bin Mohamad A1 Houlden, Henry A1 Zhelcheska, Kristina A1 Pannetier, Melanie A1 Awad, Mona A1 Lesieur-Sebellin, Marion A1 Barcia, Giulia A1 Amiel, Jeanne A1 Delanne, Julian A1 Philippe, Christophe A1 Faivre, Laurence A1 Odent, Sylvie A1 Bertoli-Avella, Aida A1 Thauvin, Christel A1 Sadikovic, Bekim A1 Reversade, Bruno A1 Maroofian, Reza A1 Govin, Jérôme A1 Tartaglia, Marco A1 Vitobello, Antonio PB HAL CCSD; Elsevier (Cell Press) YR 2022 K1 neurodevelopmental disorder K1 nuclear envelope instability K1 transcriptomics K1 translocon dysfunction K1 DNA methylation K1 LBR K1 Pelger-Huët anomaly K1 TMEM147 K1 facial dysmorphism K1 intellectual disability K1 [SDV.GEN]Life Sciences [q-bio]/Genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008 LK http://dx.doi.org/https://univ-rennes.hal.science/hal-03790588 DO https://univ-rennes.hal.science/hal-03790588 SF ELIB - SuUB Bremen
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