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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12 : An Ophthalmic Perspective
by
Nguyen, Xuan-Thanh-An
,
Almushattat, Hind
,
Strubbe, Ine
,
Georgiou, Michalis
,
Li, Catherina H Z
,
van Schooneveld, Mary J
,
Joniau, Inge
,
De Baere, Elfride
,
Florijn, Ralph J
,
Bergen, Arthur A
,
Hoyng, Carel B
,
Michaelides, Michel
,
Leroy, Bart P
,
Boon, Camiel J F
Published in
Genes
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CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids
by
Buck, Thilo M.
,
Quinn, Peter M.J.
,
Pellissier, Lucie P.
,
Mulder, Aat A.
,
Jongejan, Aldo
,
Lu, Xuefei
,
Boon, Nanda
,
Koot, Daniëlle
,
Almushattat, Hind
,
Arendzen, Christiaan H.
,
Vos, Rogier M.
,
Bradley, Edward J.
,
Freund, Christian
,
Mikkers, Harald M.M.
,
Boon, Camiel J.F.
,
Moerland, Perry D.
,
Baas, Frank
,
Koster, Abraham J.
,
Neefjes, Jacques
,
Berlin, Ilana
,
Jost, Carolina R.
,
Wijnholds, Jan
Published in
Stem cell reports
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