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ALPK1 missense pathogenic variant in five families leads to..:

Williams, LB ; Javed, A ; Sabri, A...
Williams , LB , Javed , A , Sabri , A , Morgan , DJ , Huff , CD , Grigg , JR , Heng , XT , Khng , AJ , Hollink , I , Morrison , M A , Owen , LA , Anderson , K , Kinard , K , Greenlees , R , Novacic , D , Sen , HN , Zein , WM , Rodgers , GM , Vitale , AT , Haider , NB , Hillmer , AM , Ng , PC , Shankaracharya , Cheng , A , Zheng , LD , Gillies , MC , van Slegtenhorst , M , van Hagen , P M , Missotten , T , Farley , GL , Polo , M , Malatack , J , Curtin , J , Martin , F , Arbuckle , S , Alexander , SI , Chircop , M , Davila , S , Digre , KB , Jamieson , RV & DeAngelis , MM 2019 , ' ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder ' , Genetics in Medicine , vol. 21 , no. 9 , pp. 2103-2115 . https://doi.org/10.1038/s41436-019-0476-3. , 2019

Link: https://pure.eur.nl/en/publications/1a39b99a-08db-4031..

RT Journal
T1 <Title>ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder</Title>

UL https://suche.suub.uni-bremen.de/peid=base-fturottercrispub:oai:pure.eur.nl:publications_1a39b99a-08db-4031-b28c-f8f093f2a616&Exemplar=1&LAN=DE
				
A1 Williams, LB
A1 Javed, A
A1 Sabri, A
A1 Morgan, DJ
A1 Huff, CD
A1 Grigg, JR
A1 Heng, XT
A1 Khng, AJ
A1 Hollink, Iris
A1 Morrison, M A
A1 Owen, LA
A1 Anderson, K
A1 Kinard, K
A1 Greenlees, R
A1 Novacic, D
A1 Sen, HN
A1 Zein, WM
A1 Rodgers, GM
A1 Vitale, AT
A1 Haider, NB
A1 Hillmer, AM
A1 Ng, PC
A1 Shankaracharya
A1 Cheng, A
A1 Zheng, LD
A1 Gillies, MC
A1 van Slegtenhorst, M
A1 van Hagen, P.M
A1 Missotten, T
A1 Farley, GL
A1 Polo, M
A1 Malatack, J
A1 Curtin, J
A1 Martin, F
A1 Arbuckle, S
A1 Alexander, SI
A1 Chircop, M
A1 Davila, S
A1 Digre, KB
A1 Jamieson, RV
A1 DeAngelis, MM
YR 2019
JF Williams , LB , Javed , A , Sabri , A , Morgan , DJ , Huff , CD , Grigg , JR , Heng , XT , Khng , AJ , Hollink , I , Morrison , M A , Owen , LA , Anderson , K , Kinard , K , Greenlees , R , Novacic , D , Sen , HN , Zein , WM , Rodgers , GM , Vitale , AT , Haider , NB , Hillmer , AM , Ng , PC , Shankaracharya , Cheng , A , Zheng , LD , Gillies , MC , van Slegtenhorst , M , van Hagen , P M , Missotten , T , Farley , GL , Polo , M , Malatack , J , Curtin , J , Martin , F , Arbuckle , S , Alexander , SI , Chircop , M , Davila , S , Digre , KB , Jamieson , RV & DeAngelis , MM 2019 , ' ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder ' , Genetics in Medicine , vol. 21 , no. 9 , pp. 2103-2115 . https://doi.org/10.1038/s41436-019-0476-3
LK http://dx.doi.org/https://pure.eur.nl/en/publications/1a39b99a-08db-4031-b28c-f8f093f2a616
DO https://pure.eur.nl/en/publications/1a39b99a-08db-4031-b28c-f8f093f2a616
SF ELIB - SuUB Bremen

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