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Exome reanalysis and proteomic profiling identified TRIP4 a..:

Töpf, A ; Pyle, A ; Griffin, H...
https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdf. , 2021

Link: https://discovery.ucl.ac.uk/id/eprint/10171386/1/Hould..

RT Journal
T1 <Title>Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10171386&Exemplar=1&LAN=DE
				
A1 Töpf, A
A1 Pyle, A
A1 Griffin, H
A1 Matalonga, L
A1 Schon, K
A1 Cohen, E
A1 Cuesta, I
A1 Danis, D
A1 Denommé-Pichon, AS
A1 Duffourd, Y
A1 Gilissen, C
A1 Johari, M
A1 Laurie, S
A1 Li, S
A1 Nelson, I
A1 Paramonov, I
A1 Peters, S
A1 Prasanth, S
A1 Robinson, P
A1 Sablauskas, K
A1 Savarese, M
A1 Steyaert, W
A1 van der Velde, JK
A1 Vitobello, A
A1 Baets, J
A1 Beijer, D
A1 Bonne, G
A1 Cossins, J
A1 Evangelista, T
A1 Ferlini, A
A1 Hackman, P
A1 Hanna, MG
A1 Houlden, H
A1 Lau, J
A1 Lochmüller, H
A1 Macken, WL
A1 Musacchia, F
A1 Nascimento, A
A1 Natera-de Benito, D
A1 Nigro, V
A1 Piluso, G
A1 Pini, V
A1 Pitceathly, RDS
A1 Polavarapu, K
A1 Cruz, PMR
A1 Sarkozy, A
A1 Selvatici, R
A1 Thompson, R
A1 Torella, A
A1 Udd, B
A1 Van de Vondel, L
A1 Vandrovcova, J
A1 Zaharieva, I
A1 Sickmann, A
A1 Schara–Schmidt, U
A1 Hentschel, A
A1 Chinnery, PF
A1 Kölbel, H
A1 Roos, A
A1 Horvath, R
PB Springer Science and Business Media LLC
YR 2021
K1 Cerebellum
K1 Developmental Disabilities
K1 Exome
K1 Genetic Testing
K1 Humans
K1 Infant
K1 Male
K1 Muscular Atrophy
K1 Spinal
K1 Nervous System Malformations
K1 Proteome
K1 Transcription Factors
JF https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10171386/1/Houlden_Exome%20reanalysis%20and%20proteomic%20profiling%20identified%20TRIP4%20as%20a%20novel%20cause%20of%20cerebellar%20hypoplasia%20and%20spinal%20muscular%20atrophy_VoR.pdf
SF ELIB - SuUB Bremen

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