Risultati della ricerca - Joni A. Turunen
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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma di Yosuke Tanigawa, Michael Wainberg, Juha Karjalainen, Tuomo Kiiskinen, Guhan Venkataraman, Susanna Lemmelä, Joni A. Turunen, Robert Graham, Aki S. Havulinna, Markus Perola, Aarno Palotie, Mark J. Daly, Manuel A. Rivas
Pubblicazione 2020Artigo -
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Analysis of four neuroligin genes as candidates for autism di Tero Ylisaukko‐oja, Karola Rehnström, Mari Auranen, Raija Vanhala, Reija Alén, Elli Kempas, Pekka Ellonen, Joni A. Turunen, Ismo Makkonen, Raili Riikonen, Taina Nieminen‐von Wendt, Lennart von Wendt, Leena Peltonen, Irma Järvelä
Pubblicazione 2005Artigo -
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Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide di Sebastian Walpole, Antonia L. Pritchard, Colleen M. Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H. Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa‐Lyonnet, Erin M. Garfield, Ching-Ni Jenny Njauw, Mitchell Cheung, Joni A. Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco van Doorn, Martine J. Jager, Gregorius P. M. Luyten, Marina Marinkovic, Cindy Chau, Míriam Potrony, Veronica Höiom, Hildur Helgadóttir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R. Speicher, Natasha van Poppelen, Emine Kılıç, Rana’a T. Al‐Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J. O’Shea, Julia Newton‐Bishop, Julian Adlard, David J. Adams, Anne-Marie Lane, Ivana K. Kim, Sonja Klebe, Hilary Racher, J. William Harbour, Michael L. Nickerson, Rajmohan Murali, Jane M. Palmer, Madeleine Howlie, Judith Symmons, Hayley R. Hamilton, Sunil Warrier, William Glasson, Peter A. Johansson, Carla Daniela Robles‐Espinoza, Raúl Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero Kivelä, Hensin Tsao, Joseph R. Testa, Pedram Gerami, Marc‐Henri Stern, Brigitte Bressac–de Paillerets, Mohamed H. Abdel‐Rahman, Nicholas K. Hayward
Pubblicazione 2018Revisão
Strumenti per la ricerca:
Soggetti correlati
Biology
Gene
Genetics
Medicine
Mutation
Genotype
Single-nucleotide polymorphism
Antigen
Autism
Autoimmune diabetes
BAP1
Computational biology
Confidence interval
Diabetes mellitus
Endocrinology
Genome-wide association study
Genotyping
Germline
Germline mutation
Glaucoma
Human leukocyte antigen
Immunology
Internal medicine
Intraocular pressure
Missense mutation
Neurexin
Neuroligin
Ophthalmology
PTPN22
Phenotype