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2 research outputs found
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
Author
Christiansen J
Forster F
+18Â more
Gangfuss A
Gross C
Gruneboom A
Hannappel L
Hentschel A
Horvath R
Kohlschmidt N
Lochmuller H
Meyer N
Polaparapu K
Preusse C
Roos A
Schanzer A
Schara-Schmidt U
Sickmann A
Thompson R
Topf A
Vorgerd M
Publication venue
'Springer Fachmedien Wiesbaden GmbH'
Publication date
01/01/2023
Field of study
No full text
Newcastle University E-Prints
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
Author
Alrohaif H
Assent M
+31Â more
Barresi R
Beck-Wodl S
Bois K
Daya N
Della Marina A
Depienne C
El Gizouli M
Evangelista T
Fuerst DO
Gangfuss A
Grande V
Gruneboom A
Heil L
Hentschel A
Kaiser FJ
Kohlschmidt N
Kolbel H
Kuechler A
Lochmuller H
Meyer N
O'Connor K
Robisch L
Roos A
Schara-Schmidt U
Schroder C
Sickmann A
Topf A
Tzschach A
van der Ven PFM
Vorgerd M
Weis J
Publication venue
'Oxford University Press (OUP)'
Publication date
03/10/2023
Field of study
No full text
Newcastle University E-Prints