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Genetic findings in a cohort of patients with pulmonary arterial hypertension referred for NGS panel testing Hathaway, Julie; Cicerchia, Marcos; Tommiska, Johanna; Ahonen, Saija; Seppala, Eija; Gall, Kimberly; Scocchia, Alicia; Saarinen, Inka; Rantanen, Matias; Schleit, Jennifer; Kangas-Kontio, Tiia; Gentile, Massimiliano; Salmenpera, Pertteli; Paananen, Jussi; Myllykangas, Samuel; Koskenvuo, Juha 分享 收藏
Searching beyond the exons in nuclear genes: Diagnostic deep intronic and mitochondrial variants in patients with monogenic diabetes Scocchia, Alicia; Gall, Kimberly; Hathaway, Julie; Taylor, Archie; Huusko, Johanna; Bernal, Manuel; Kansakoski, Johanna; von Nandelstadh, Pernilla; Tommiska, Johanna; Saarinen, Inka; Rantanen, Matias; Schleit, Jennifer; Gentile, Massimiliano; Salmenpera, Pertteli; Paananen, Jussi; Myllykangas, Samuel; Koskenvuo, Juha 分享 收藏
Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges Hathaway, Julie; Scocchia, Alicia; Huusko, Johanna; Bernal, Manuel; Saarinen, Inka; Rantanen, Matias; Schleit, Jennifer; Kangas-Kontio, Tiia; Pietila, Tuuli; Salmenpera, Pertteli; Gentile, Massimiliano; Myllykangas, Samuel; Koskenvuo, Juha; Gall, Kim 分享 收藏
Diagnostic yield of genetic testing in an unselected cohort of patients with congenital heart disease Hathaway, Julie; Cicerchia, Marcos; Tommiska, Johanna; Ahonen, Saija; Seppala, Eija; Scocchia, Alicia; Saarinen, Inka; Gall, Kimberly; Rantanen, Matias; Schleit, Jennifer; Kangas-Kontio, Tiia; Gentile, Massimiliano; Salmenpera, Pertteli; Paananen, Jussi; Myllykangas, Samuel; Koskenvuo, Juha 分享 收藏
High-resolution targeted bisulfite sequencing reveals blood cell type-specific DNA methylation patterns in IL13 and ORMDL3 Soderhall, Cilla; Reinius, Lovisa E.; Salmenpera, Pertteli; Gentile, Massimiliano; Acevedo, Nathalie; Konradsen, Jon R.; Nordlund, Bjorn; Hedlin, Gunilla; Scheynius, Annika; Myllykangas, Samuel; Kere, Juha 分享 收藏
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy Akinrinade, Oyediran; Ollila, Laura; Vattulainen, Sanna; Tallila, Jonna; Gentile, Massimiliano; Salmenpera, Pertteli; Koillinen, Hannele; Kaartinen, Maija; Nieminen, Markku S.; Myllykangas, Samuel; Alastalo, Tero-Pekka; Koskenvuo, Juha W.; Helio, Tiina 分享 收藏
Characterization of Uterine Leiomyomas by Whole-Genome Sequencing Mehine, Miika; Kaasinen, Eevi; Makinen, Netta; Katainen, Riku; Kampjarvi, Kati; Pitkanen, Esa; Heinonen, Hanna-Riikka; Butzow, Ralf; Kilpivaara, Outi; Kuosmanen, Anna; Ristolainen, Heikki; Gentile, Massimiliano; Sjoberg, Jari; Vahteristo, Pia; Aaltonen, Lauri A. 分享 收藏
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Brief Report: Mutant CHUK and Severe Fetal Encasement Malformation. Lahtela, Jenni; Nousiainen, Heidi O.; Stefanovic, Vedran; Tallila, Jonna; Viskari, Heli; Karikoski, Riitta; Gentile, Massimiliano; Saloranta, Carola; Varilo, Teppo; Salonen, Riitta; Kestila, Marjo 分享 收藏
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Cross-species analyses implicate Lipin 1 involvement in human glucose metabolism Suviolahti, E; Reue, K; Cantor, RM; Phan, J; Gentile, M; Naukkarinen, J; Soro-Paavonen, A; Oksanen, L; Kaprio, J; Rissanen, A; Salomaa, V; Kontula, K; Taskinen, MR; Pajukanta, P; Peltonen, L 分享 收藏
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Mice with Ppt1Δex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons Jalanko, A; Vesa, J; Manninen, T; von Schantz, C; Minye, H; Fabritius, AL; Salonen, T; Rapola, J; Gentile, M; Kopra, O; Peltonen, L 分享 收藏
Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1) Pajukanta, P; Lilja, HE; Sinsheimer, JS; Cantor, RM; Lusis, AJ; Gentile, M; Duan, XQJ; Soro-Paavonen, A; Naukkarinen, J; Saarela, J; Laakso, M; Ehnholm, C; Taskinen, MR; Peltonen, L 分享 收藏
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