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Clinico-radiological features, molecular spectrum, and iden..:

Scala, M ; Wortmann, SB ; Kaya, N...
https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf. , 2022

Link: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human..

RT Journal
T1 <Title>Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10142352&Exemplar=1&LAN=DE
				
A1 Scala, M
A1 Wortmann, SB
A1 Kaya, N
A1 Stellingwerff, MD
A1 Pistorio, A
A1 Glamuzina, E
A1 van Karnebeek, CD
A1 Skrypnyk, C
A1 Iwanicka-Pronicka, K
A1 Piekutowska-Abramczuk, D
A1 Ciara, E
A1 Tort, F
A1 Sheidley, B
A1 Poduri, A
A1 Jayakar, P
A1 Jayakar, A
A1 Upadia, J
A1 Walano, N
A1 Haack, TB
A1 Prokisch, H
A1 Aldhalaan, H
A1 Karimiani, EG
A1 Yildiz, Y
A1 Ceylan, AC
A1 Santiago-Sim, T
A1 Dameron, A
A1 Yang, H
A1 Toosi, MB
A1 Ashrafzadeh, F
A1 Akhondian, J
A1 Imannezhad, S
A1 Mirzadeh, HS
A1 Maqbool, S
A1 Farid, A
A1 Al-Muhaizea, MA
A1 Alshwameen, MO
A1 Aldowsari, L
A1 Alsagob, M
A1 Alyousef, A
A1 AlMass, R
A1 AlHargan, A
A1 Alwadei, AH
A1 AlRasheed, MM
A1 Colak, D
A1 Alqudairy, H
A1 Khan, S
A1 Lines, MA
A1 Cazorla, MAG
A1 Ribes, A
A1 Morava, E
A1 Bibi, F
A1 Haider, S
A1 Ferla, MP
A1 Taylor, JC
A1 Alsaif, HS
A1 Firdous, A
A1 Hashem, M
A1 Shashkin, C
A1 Koneev, K
A1 Kaiyrzhanov, R
A1 Efthymiou, S
A1 Genomics, QS
A1 Schmitt-Mechelke, T
A1 Ziegler, A
A1 Issa, MY
A1 Elbendary, HM
A1 Striano, P
A1 Alkuraya, FS
A1 Zaki, MS
A1 Gleeson, JG
A1 Barakat, TS
A1 Bierau, J
A1 van der Knaap, MS
A1 Maroofian, R
A1 Houlden, H
PB WILEY
YR 2022
K1 congenital microcephaly
K1 developmental and epileptic encephalopathy 35
K1 heart disease
K1 ITPA
K1 ITPase
K1 white matter abnormalities
JF https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdf
SF ELIB - SuUB Bremen

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