日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

遗传性和获得性儿童小脑疾病的表型异质性

Granath, Katariina; Huhtaniska, Sanna; Ellonen, Juulia; Pokka, Tytti; Kangas, Salla M; Moilanen, Jukka; Helander, Heli; Kallankari, Hanna; Komulainen-Ebrahim, Jonna; Vieira, Päivi; Rahikkala, Elisa; Guerrini, Renzo; Honkila, Minna; Ruuska, Terhi S; Hinttala, Reetta; Suo-Palosaari, Maria; Tolonen, Jussi-Pekka; Uusimaa, Johanna

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

儿童遗传性疾病与白质异常相关的脑部MRI检查结果

Oikarainen, Jaakko H; Knuutinen, Oula A; Kangas, Salla M; Rahikkala, Elisa J; Pokka, Tytti M-L; Moilanen, Jukka S; Hinttala, Reetta M; Vieira, Päivi M; Uusimaa, Johanna M; Suo-Palosaari, Maria H

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2

两例痉挛性共济失调2型患者携带一种新的纯合KIF1C变异

Granath, Katariina; Kangas, Salla M; Huhtaniska, Sanna; Suo-Palosaari, Maria; Ronkainen, Veli-Pekka; Helander, Heli; Rahikkala, Elisa; Hinttala, Reetta; Uusimaa, Johanna; Tolonen, Jussi-Pekka

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants

芬兰人群中遗传性视网膜疾病的特征和患病率揭示了人群特异性表型和致病变异的富集情况

Lähteenoja, Laura; Ohtonen, Pasi; Falck, Aura; Rahikkala, Elisa Johanna

Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants

芬兰家族性渗出性玻璃体视网膜病变患者的临床和遗传特征及自然史(由致病性FZD4变异引起)

Lähteenoja, Laura; Palosaari, Tapani; Tiirikka, Timo; Haanpää, Maria; Moilanen, Jukka; Falck, Aura; Rahikkala, Elisa

Serum Soluble ST2 and IL-33 Levels in Finnish Patients With Juvenile Idiopathic Arthritis

芬兰幼年特发性关节炎患者血清可溶性ST2和IL-33水平

Teräsjärvi, Johanna; Möttönen, Milja; Rahikkala, Heidi; Kvist, Sonja; Anabe, Denise; Mertsola, Jussi; He, Qiushui

Incidence of juvenile idiopathic arthritis in Finland, 2000-2020

2000-2020年芬兰幼年特发性关节炎的发病率

Uusitupa, Erika; Rahikkala, Heidi; Sard, Sirja; Pokka, Tytti; Salo, Henri; Kärki, Johanna; Sokka-Isler, Tuulikki; Backström, Maria; Vähäsalo, Paula

Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome

检测嵌合型基底细胞痣综合征中的PTCH1拷贝数变异

Roemen, Guido M J M; Theunissen, Tom E J; Hoezen, Ward W J; Steyls, Anja R M; Paulussen, Aimee D C; Mosterd, Klara; Rahikkala, Elisa; Zur Hausen, Axel; Speel, Ernst Jan M; van Geel, Michel

A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion

一种与婴儿期游走性局灶性癫痫相关的新型致病性SLC12A5错义变异导致KCC2氯离子外排受损。

Viivi Järvelä,Mira Hamze,Jonna Komulainen-Ebrahim,Elisa Rahikkala,Johanna Piispala,Mika Kallio,Salla M Kangas,Tereza Nickl,Marko Huttula,Reetta Hinttala,Johanna Uusimaa,Igor Medina,Esa-Ville Immonen

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3

光学基因组图谱鉴定出与夏科-马里-图斯神经病 (CMTX3) 相关的第二个 Xq27.1 重排

Rahikkala, Elisa; Komulainen-Ebrahim, Jonna; Tolonen, Jussi-Pekka; Vorimo, Sandra; Suo-Palosaari, Maria; Vieira, Päivi; Piispala, Johanna; Uusimaa, Johanna; Pylkäs, Katri; Mantere, Tuomo