Suzanne Kroes
21  Ergebnisse:
Personensuche X
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2

CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivaca..:

Lefferts, Juliet W. ; Bierlaagh, Marlou C. ; Kroes, Suzanne...
International Journal of Molecular Sciences.  24 (2023)  19 - p. 14539 , 2023
 
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5

Dandy‐Walker complex in a boy with a 5 Mb deletion of regio..:

Poot, Martin ; Kroes, Hester Y. ; v. d. Wijst, Suzanne E....
American Journal of Medical Genetics Part A.  143A (2007)  10 - p. 1038-1044 , 2007
 
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7

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
https://research.rug.nl/en/publications/33968473-8cf1-49e9-85da-4089312f325a.  , 2023
 
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9

Whole genome sequencing for USH2A-associated disease reveal..:

Janine Reurink ; Nicole Weisschuh ; Alejandro Garanto...
http://www.sciencedirect.com/science/article/pii/S2666247723000131.  , 2023
 
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10

Diagnostic exome sequencing in 266 Dutch patients with visu..:

Haer-Wigman, Lonneke ; van Zelst-Stams, Wendy A. G ; Pfundt, Rolph...
https://research.rug.nl/en/publications/557ee2e3-c9da-4bb6-8b43-0c12c605dc5d.  , 2017
 
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11

Diagnostic exome sequencing in 266 Dutch patients with visu..:

Haer-Wigman, Lonneke ; van Zelst-Stams, Wendy A. G ; Pfundt, Rolph...
Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , L I , Klaver , C C W , Verheij , J B G M , Hoyng , C B , Breuning , M H , Boon , C J F , Kievit , A J , Verhoeven , V J M , Pott , J W R , Sallevelt , S C E H , van Hagen , J M , Plomp , A S , Kroes , H Y , Lelieveld , S H , Hehir-Kwa , J Y , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , F P M , Hoefsloot , L & Yntema , H G 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9.  , 2017
 
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14

Stickler syndrome caused by COL2A1 mutations: genotype-phen..:

Hoornaert, Kristien P ; Vereecke, Inge ; Dewinter, Chantal...
Hoornaert , K P , Vereecke , I , Dewinter , C , Rosenberg , T , Beemer , F A , Leroy , J G , Bendix , L , Bjorck , E , Bonduelle , M , Boute , O , Cormier-Daire , V , Smulders - de Die , C , Dieux-Coeslier , A , Dollfus , H , Elting , M W , Green , A , Guerci , V I , Hennekam , R C M , Hilhorts-Hofstee , Y , Holder , M , Hoyng , C , Jones , K J , Josifova , D , Kaitila , I , Kjaergaard , S , Kroes , Y H , Lagerstedt , K , Lees , M , LeMerrer , M , Magnani , C , Marcelis , C , Martorell , L , Mathieu , M , McEntagart , M , Mendicino , A , Morton , J , Orazio , G , Paquis , V , Reish , O , Simola , K O J , Smithson , S F , Temple , I K , Van Aken , E , van Bever , Y , van den Ende , J , van Hagen , J M , Zelante , L , Zordania , R , De Paepe , A , Leroy , B P , De Buyzere , M , Coucke , P J & Mortier , G R 2010 , ' Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients ' , European Journal of Human Genetics , vol. 18 , no....  , 2010
 
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15

Stickler syndrome caused by COL2A1 mutations: genotype-phen..:

Mortier, Geert ; Hoornaert, Kristien P ; Vereecke, Inge...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2010.23.  , 2010
 
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