학술논문
'학술논문'
에서 검색결과 29건 | 목록
1~10
Academic Journal
Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah; Mishra, Ketan; Whelan, Laura; Cornelis, Stéphanie S.; Hoyng, Carel B.; Kämpjärvi, Kati; Klaver, Caroline C.W.; Liskova, Petra; Stöhr, Heidi; Weber, Bernhard H.F.; Banfi, Sandro; Farrar, G. Jane; Sharon, Dror; Zernant, Jana; Allikmets, Rando; Dhaenens, Claire-Marie; Cremers, Frans P.M.
In Human Genetics and Genomics Advances 12 October 2023 4(4)
Academic Journal
Cornelis, Stéphanie S.; IntHout, Joanna; Runhart, Esmee H.; Grunewald, Olivier; Lin, Siying; Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah J.; Whelan, Laura; Farrar, G. Jane; Sharon, Dror; van den Born, L. Ingeborgh; Arno, Gavin; Simcoe, Mark; Michaelides, Michel; Webster, Andrew R.; Roosing, Susanne; Mahroo, Omar A.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
JAMA Ophthalmology; May2024, Vol. 142 Issue 5, p463-471, 9p
Academic Journal
Cornelis, Stéphanie S.; Bauwens, Miriam; Haer-Wigman, Lonneke; De Bruyne, Marieke; Pantrangi, Madhulatha; De Baere, Elfride; Hufnagel, Robert B.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
Human Mutation; 12/26/2023, p1-12, 12p
Academic Journal
Cornelis, Stephanie S.; Inthout, Joanna; Runhart, Esmee H.; Grunewald, Olivier; Lin, Siying; Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah J.; Whelan, Laura; Farrar, G. Jane; Sharon, Dror; van den Born, L. Ingeborgh; Arno, Gavin; Simcoe, Mark; Michaelides, Michel; Webster, Andrew R.; Roosing, Susanne; Mahroo, Omar A.; Dhaenens, Claire-Marie; Cremers, Frans P. M.; ABCA4 Study Grp
Academic Journal
Cornelis, Stephanie S.; Bauwens, Miriam; Haer-Wigman, Lonneke; De Bruyne, Marieke; Pantrangi, Madhulatha; De Baere, Elfride; Hufnagel, Robert B.; Dhaenens, Claire-Marie; Cremers, Frans P. M.
Academic Journal
Cornelis, Stéphanie S.; Runhart, Esmee H.; Bauwens, Miriam; Corradi, Zelia; De Baere, Elfride; Roosing, Susanne; Haer-Wigman, Lonneke; Dhaenens, Claire-Marie; Vulto-van Silfhout, Anneke T.; Cremers, Frans P.M.
Academic Journal
Runhart, Esmee H.; Khan, Mubeen; Cornelis, Stéphanie S.; Roosing, Susanne; Del Pozo-Valero, Marta; Lamey, Tina M.; Liskova, Petra; Roberts, Lisa; Stöhr, Heidi; Klaver, Caroline C. W.; Hoyng, Carel B.; Cremers, Frans P. M.; Dhaenens, Claire-Marie; ABCA4 Disease Consortium Study Group; Disease Consortium Study Group
JAMA Ophthalmology; Oct2020, Vol. 138 Issue 10, p1035-1042, 8p
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4.
Academic Journal
Fadaie, Zeinab; Khan, Mubeen; Del Pozo‐Valero, Marta; Cornelis, Stéphanie S.; Ayuso, Carmen; Cremers, Frans P. M.; Roosing, Susanne; The ABCA4 study group
Human Mutation; Dec2019, Vol. 40 Issue 12, p2365-2376, 12p
Academic Journal
Khan, Mubeen; Cornelis, Stéphanie S.; Khan, Muhammad Imran; Elmelik, Duaa; Manders, Eline; Bakker, Sem; Derks, Ronny; Neveling, Kornelia; Vorst, Maartje; Gilissen, Christian; Meunier, Isabelle; Defoort, Sabine; Puech, Bernard; Devos, Aurore; Schulz, Heidi L.; Stöhr, Heidi; Grassmann, Felix; Weber, Bernhard H. F.; Dhaenens, Claire‐Marie; Cremers, Frans P. M.
Human Mutation; Oct2019, Vol. 40 Issue 10, p1749-1759, 11p
Academic Journal
Khan, Mubeen; Cornelis, Stéphanie S.; Pozo-Valero, Marta Del; Whelan, Laura; Runhart, Esmee H.; Mishra, Ketan; Bults, Femke; AlSwaiti, Yahya; AlTalbishi, Alaa; De Baere, Elfride; Banfi, Sandro; Banin, Eyal; Bauwens, Miriam; Ben-Yosef, Tamar; Boon, Camiel J. F.; van den Born, L. Ingeborgh; Defoort, Sabine; Devos, Aurore; Dockery, Adrian; Dudakova, Lubica; Fakin, Ana; Farrar, G. Jane; Sallum, Juliana Maria Ferraz; Fujinami, Kaoru; Gilissen, Christian; Glavač, Damjan; Gorin, Michael B.; Greenberg, Jacquie; Hayashi, Takaaki; Hettinga, Ymkje M.; Hoischen, Alexander; Hoyng, Carel B.; Hufendiek, Karsten; Jägle, Herbert; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Kousal, Bohdan; Lamey, Tina M.; MacDonald, Ian M.; Matynia, Anna; McLaren, Terri L.; Mena, Marcela D.; Meunier, Isabelle; Miller, Rianne; Newman, Hadas; Ntozini, Buhle; Oldak, Monika; Pieterse, Marc; Podhajcer, Osvaldo L.; Puech, Bernard; Ramesar, Raj; Rüther, Klaus; Salameh, Manar; Salles, Mariana Vallim; Sharon, Dror; Simonelli, Francesca; Spital, Georg; Steehouwer, Marloes; Szaflik, Jacek P.; Thompson, Jennifer A.; Thuillier, Caroline; Tracewska, Anna M.; van Zweeden, Martine; Vincent, Andrea L.; Zanlonghi, Xavier; Liskova, Petra; Stöhr, Heidi; Roach, John N. De; Ayuso, Carmen; Roberts, Lisa; Weber, Bernhard H. F.; Dhaenens, Claire‐Marie; Cremers, Frans P. M.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(7):1235-1246
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[AR] Cornelis, Stephanie S.
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