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Author/Creator Sankila, Eeva-Marja

1. Development of a genotyping microarray for Usher syndrome. Issue 2 (8th September 2006)

Authors:
Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner-Glindzicz, Maria; Web...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 2(2007)
Page Start:
153
Record Type:
Journal Article
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2. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. (2nd November 2021)

Authors:
Igelman, Austin D.; Ku, Cristy; da Palma, Mariana Matioli; Georgiou, Michalis; Schiff, Elena R.; Lam, Byron L.; Sankila, Eeva-Marja; Ahn, Jeeyun; Pyers, Lindsey; Vincent, Ajoy; Ferraz Sallum, Juliana Maria; Zein, Wadih M.; Oh, Jin Kyun; Maldonado, Ramiro S.; Ryu, Joseph; Tsang, Stephen H.; Gorin,...
Journal:
Ophthalmic genetics
Issue:
Volume 42:Number 6(2021)
Page Start:
664
Record Type:
Journal Article
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3. Macular spatial distribution of preserved autofluorescence in patients with choroideremia. Issue 7 (8th October 2018)

Authors:
Hariri, Amir H; Ip, Michael S; Girach, Aniz; Lam, Byron L; Fischer, M. Dominik; Sankila, Eeva-Marja; Pennesi, Mark Edward; Holz, Frank G; Maclaren, Robert E; Birch, David G; Hoyng, Carel B; MacDonald, Ian M; Black, Graeme C; Tsang, Stephen H; Bressler, Neil M; Stepien, Kimberly E; Larsen, Michael...
Journal:
British journal of ophthalmology
Issue:
Volume 103:Issue 7(2019)
Page Start:
933
Record Type:
Journal Article
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4. Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. Issue 1 (December 2017)

Authors:
Tommiska, Johanna; Känsäkoski, Johanna; Skibsbye, Lasse; Vaaralahti, Kirsi; Liu, Xiaonan; Lodge, Emily; Tang, Chuyi; Yuan, Lei; Fagerholm, Rainer; Kanters, Jørgen; Lahermo, Päivi; Kaunisto, Mari; Keski-Filppula, Riikka; Vuoristo, Sanna; Pulli, Kristiina; Ebeling, Tapani; Valanne, Leena; Sankila, ...
Journal:
Nature communications
Issue:
Volume 8:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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