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Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Q ; Motta, M ; Gautier, T...
https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdf. , 2022

Link: https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2...

RT Journal
T1 <Title>Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10158009&Exemplar=1&LAN=DE
				
A1 Thomas, Q
A1 Motta, M
A1 Gautier, T
A1 Zaki, MS
A1 Ciolfi, A
A1 Paccaud, J
A1 Girodon, F
A1 Boespflug-Tanguy, O
A1 Besnard, T
A1 Kerkhof, J
A1 McConkey, H
A1 Masson, A
A1 Denommé-Pichon, AS
A1 Cogné, B
A1 Trochu, E
A1 Vignard, V
A1 El It, F
A1 Rodan, LH
A1 Alkhateeb, MA
A1 Jamra, RA
A1 Duplomb, L
A1 Tisserant, E
A1 Duffourd, Y
A1 Bruel, AL
A1 Jackson, A
A1 Banka, S
A1 McEntagart, M
A1 Saggar, A
A1 Gleeson, JG
A1 Sievert, D
A1 Bae, H
A1 Lee, BH
A1 Kwon, K
A1 Seo, GH
A1 Lee, H
A1 Saeed, A
A1 Anjum, N
A1 Cheema, H
A1 Alawbathani, S
A1 Khan, I
A1 Pinto-Basto, J
A1 Teoh, J
A1 Wong, J
A1 Sahari, UBM
A1 Houlden, H
A1 Zhelcheska, K
A1 Pannetier, M
A1 Awad, MA
A1 Lesieur-Sebellin, M
A1 Barcia, G
A1 Amiel, J
A1 Delanne, J
A1 Philippe, C
A1 Faivre, L
A1 Odent, S
A1 Bertoli-Avella, A
A1 Thauvin, C
A1 Sadikovic, B
A1 Reversade, B
A1 Maroofian, R
A1 Govin, J
A1 Tartaglia, M
A1 Vitobello, A
PB Elsevier BV
YR 2022
K1 DNA methylation
K1 LBR
K1 Pelger-Huët anomaly
K1 TMEM147
K1 facial dysmorphism
K1 intellectual disability
K1 neurodevelopmental disorder
K1 nuclear envelope instability
K1 transcriptomics
K1 translocon dysfunction
K1 Cell Nucleus
K1 Child
K1 Chromatin
K1 Humans
K1 Loss of Heterozygosity
K1 Musculoskeletal Abnormalities
K1 Pelger-Huet Anomaly
JF https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10158009/1/1-s2.0-S0002929722003603-main.pdf
SF ELIB - SuUB Bremen

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