학술논문
'학술논문'
에서 검색결과 104건 | 목록
1~10
Academic Journal
Schrauwen, Isabelle; Rajendran, Yasmin; Acharya, Anushree; Öhman, Susanna; Arvio, Maria; Paetau, Ritva; Siren, Auli; Avela, Kristiina; Granvik, Johanna; Leal, Suzanne M.; Määttä, Tuomo; Kokkonen, Hannaleena; Järvelä, Irma
Academic Journal
In European Journal of Medical Genetics August 2023 66(8)
Academic Journal
Ignatius, Erika; Puosi, Riina; Palomäki, Maarit; Forsbom, Noora; Pohjanpelto, Max; Alitalo, Tiina; Anttonen, Anna-Kaisa; Avela, Kristiina; Haataja, Leena; Carroll, Christopher J.; Lönnqvist, Tuula; Isohanni, Pirjo
In European Journal of Paediatric Neurology March 2022 37:1-7
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
Academic Journal
Majander, Anna; Sankila, Eeva‐Marja; Falck, Aura; Vasara, Laura Kristiina; Seitsonen, Sanna; Kulmala, Maarit; Haavisto, Anna‐Kaisa; Avela, Kristiina; Turunen, Joni A.
Academic Journal
Avela, Kristiina; Salonen‐Kajander, Riitta; Laitinen, Arja; Ramsden, Simon; Barton, Stephanie; Rudanko, Sirkka‐Liisa
Academic Journal
Jacquemin, Valerie; Versbraegen, Nassim; Duerinckx, Sarah; Massart, Annick; Soblet, Julie; Perazzolo, Camille; Deconinck, Nicolas; Brischoux-Boucher, Elise; De Leener, Anne; Revencu, Nicole; Janssens, Sandra; Moorgat, Stèphanie; Blaumeiser, Bettina; Avela, Kristiina; Touraine, Renaud; Abou Jaoude, Imad; Keymolen, Kathelijn; Saugier-Veber, Pascale; Lenaerts, Tom; Abramowicz, Marc
Human Genomics; 3/2/2023, Vol. 17 Issue 1, p1-14, 14p
Academic Journal
Avela, Kristiina; Kuuluvainen, Liina; Aittomäki, Kristiina; Sankila, Eeva‐Marja; Seitsonen, Sanna; Barton, Stephanie; Gillies, Stuart
Academic Journal
Närhi, Anu; Fernandes, Andrea; Toiviainen‐Salo, Sanna; Harris, Jessica; McInerney‐Leo, Aideen; Lazarus, Syndia; Avela, Kristiina; Duncan, Emma L.
American Journal of Medical Genetics. Part A; Aug2021, Vol. 185 Issue 8, p2477-2481, 5p
Academic Journal
In European Journal of Medical Genetics November-December 2014 57(11-12):617-620
A novel MPLKIP‐variant in three Finnish patients with non‐photosensitive trichothiodystrophy type 4.
Academic Journal
American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1875-1882, 8p
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[AR] Avela, Kristiina
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