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Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, M ; Maroofian, R ; Çavdarlı, B...
https://openaccess.sgul.ac.uk/id/eprint/113472/1/s41436-021-01260-4.pdf. , 2021

Link: https://openaccess.sgul.ac.uk/id/eprint/113472/

RT Journal
T1 <Title>Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftstgeorgesuniv:oai:openaccess.sgul.ac.uk:113472&Exemplar=1&LAN=DE
				
A1 Iqbal, M
A1 Maroofian, R
A1 Çavdarlı, B
A1 Riccardi, F
A1 Field, M
A1 Banka, S
A1 Bubshait, DK
A1 Li, Y
A1 Hertecant, J
A1 Baig, SM
A1 Dyment, D
A1 Efthymiou, S
A1 Abdullah, U
A1 Makhdoom, EUH
A1 Ali, Z
A1 Scherf de Almeida, T
A1 Molinari, F
A1 Mignon-Ravix, C
A1 Chabrol, B
A1 Antony, J
A1 Ades, L
A1 Pagnamenta, AT
A1 Jackson, A
A1 Douzgou, S
A1 Genomics England Research Consortium
A1 Beetz, C
A1 Karageorgou, V
A1 Vona, B
A1 Rad, A
A1 Baig, JM
A1 Sultan, T
A1 Alvi, JR
A1 Maqbool, S
A1 Rahman, F
A1 Toosi, MB
A1 Ashrafzadeh, F
A1 Imannezhad, S
A1 Karimiani, EG
A1 Sarwar, Y
A1 Khan, S
A1 Jameel, M
A1 Noegel, AA
A1 Budde, B
A1 Altmüller, J
A1 Motameny, S
A1 Höhne, W
A1 Houlden, H
A1 Nürnberg, P
A1 Wollnik, B
A1 Villard, L
A1 Alkuraya, FS
A1 Osmond, M
A1 Hussain, MS
A1 Yigit, G
PB Springer Nature
YR 2021
JF https://openaccess.sgul.ac.uk/id/eprint/113472/1/s41436-021-01260-4.pdf
LK http://dx.doi.org/https://openaccess.sgul.ac.uk/id/eprint/113472/
DO https://openaccess.sgul.ac.uk/id/eprint/113472/
SF ELIB - SuUB Bremen

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