المؤلفون: Olinger, Eric, Phakdeekitcharoen, Pran, Caliskan, Yasar, Orr, Sarah, Mabillard, Holly, Pickles, Charles, Tse, Yincent, Wood, Katrina, Sayer, John A.

المساهمون: Medical Research Council Canada, Kidney Research UK, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 190, issue 1, page 109-120 ; ISSN 1552-4868 1552-4876

الإتاحة: https://doi.org/10.1002/ajmg.c.31964Test

المؤلفون: Mabillard, Holly, Olinger, Eric, Sayer, John A.

المساهمون: Kidney Research UK, Medical Research Council, Swiss National Science Foundation

المصدر: Journal of Rare Diseases ; volume 1, issue 1 ; ISSN 2731-085X

الإتاحة: https://doi.org/10.1007/s44162-022-00005-4Test

المؤلفون: Lemoine, Hugo, Raud, Loann, Foulquier, François, Sayer, John A., Lambert, Baptiste, Olinger, Eric, Lefèvre, Siriane, Knebelmann, Bertrand, Harris, Peter C., Trouvé, Pascal, Desprès, Aurore, Duneau, Gabrielle, Matignon, Marie, Poyet, Anais, Jourde-Chiche, Noémie, Guerrot, Dominique, Lemoine, Sandrine, Seret, Guillaume, Barroso-Gil, Miguel, Bingham, Coralie, Gilbert, Rodney, Le Meur, Yannick, Audrézet, Marie-Pierre, Cornec-Le Gall, Emilie

المصدر: The American Journal of Human Genetics ; volume 109, issue 8, page 1484-1499 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.06.013Test
https://api.elsevier.com/content/article/PII:S000292972200266X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972200266X?httpAccept=text/plainTest

المؤلفون: Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Klinkhammer, Hannah, Marchi, Elaine, Caro, Pilar, Abdelrazek, Ibrahim M, Pantel, Jean Tori, Hagen, Merle Ten, Thong, Meow-Keong, Binti Mazlan, Rifhan Azwani, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz Carvalho, Vilella, Thainá, Pinheiro, Isabel Furquim, Kim, Chong Ae, Melaragno, Maria Isabel, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro Mauro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias B, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina Noemi, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Oegema, Renske, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio F, Höller, Matthias, Toutouna, Louiza, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John A, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adam, Ronja, Einicke, Lara, Horn, Denise, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri A, Conti, Marcelo Martinez, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Bouman, Arjan, Lumaka, Aime, Wasif, Naveed, Shinawi, Marwan, Blackburn, Patrick R, Wang, Tianyun, Niehues, Tim, Schmidt, Axel, Roth, Regina Rita, Wieczorek, Dagmar, Hu, Ping, Waikel, Rebekah L, Ledgister Hanchard, Suzanna E, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Arlt, Annabelle, Olinger, Eric, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Chung, Brian Hon-Yin, Mak, Christopher C Y, Kayserili, Hülya, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli Özlem, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen W, Mücke, Martin, Verloes, Alain, Schaaf, Christian P, Nellåker, Christoffer, Solomon, Benjamin D, Nöthen, Markus M, Abdalla, Ebtesam, Lyon, Gholson J, Krawitz, Peter M, Hsieh, Tzung-Chien

المصدر: Res Sq

العلاقة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test; https://pubmed.ncbi.nlm.nih.gov/38903062Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11188141Test/

الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pubmed.ncbi.nlm.nih.gov/38903062Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11188141Test/

المؤلفون: Orr, Sarah¹ (AUTHOR), Olinger, Eric¹ (AUTHOR), Iosifidou, Sotia¹ (AUTHOR), Barroso‐Gil, Miguel¹ (AUTHOR), Neatu, Ruxandra¹ (AUTHOR), Wood, Katrina² (AUTHOR), Wilson, Ian³ (AUTHOR), Sayer, John Andrew^1,4,5 (AUTHOR) John.sayer@ncl.ac.uk

المصدر: Annals of Human Genetics. Jan2024, Vol. 88 Issue 1, p76-85. 10p.

مصطلحات موضوعية: *CYSTIC kidney disease, *GENETIC disorder diagnosis, *MOLECULAR diagnosis, *PHENOTYPES, *WHOLE genome sequencing, *PIPELINE failures, *POLYCYSTIC kidney disease

المؤلفون: Geraghty, Robert M., Wilson, Ian, Olinger, Eric, Cook, Paul, Troup, Susan, Kennedy, David, Rogers, Alistair, Somani, Bhaskar K., Dhayat, Nasser A., Fuster, Daniel G., Sayer, John A.

المصدر: Journal of Endourology; Dec2023, Vol. 37 Issue 12, p1295-1304, 10p

مصطلحات موضوعية: KIDNEY stones, MACHINE learning, BIOCHEMISTRY, CALCIUM oxalate, BUILDING stones

مصطلحات جغرافية: BERN (Switzerland), NEWCASTLE upon Tyne (England)

المؤلفون: Ponte, Belen, Pruijm, Menno, Ackermann, Daniel, Olinger, Eric, Youhanna, Sonia, Vogt, Bruno, Burnier, Michel, Pechere-Bertschi, Antoinette, Bochud, Murielle, Devuyst, Olivier

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

المصدر: Clinical journal of the American Society of Nephrology, Vol. 16, no. 5, p. 787-789 (2021)

مصطلحات موضوعية: Transplantation, Nephrology, Critical Care and Intensive Care Medicine, Epidemiology

العلاقة: boreal:250676; http://hdl.handle.net/2078.1/250676Test; info:pmid/; urn:ISSN:1555-9041; urn:EISSN:1555-905X

الإتاحة: https://doi.org/10.2215/cjn.11230720Test
http://hdl.handle.net/2078.1/250676Test

المؤلفون: Ponte, Belen, Sadler, Marie C., Olinger, Eric, Vollenweider, Peter, Bochud, Murielle, Padmanabhan, Sandosh, Hayward, Caroline, Kutalik, Zoltán, Devuyst, Olivier

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie

المصدر: Kidney international, Vol. 100, no. 6, p. 1282-1291 (2021)

مصطلحات موضوعية: Nephrology

العلاقة: boreal:254440; http://hdl.handle.net/2078.1/254440Test; urn:ISSN:0085-2538; urn:EISSN:1523-1755

الإتاحة: https://doi.org/10.1016/j.kint.2021.08.032Test
http://hdl.handle.net/2078.1/254440Test

المؤلفون: Barroso‐Gil, Miguel, Olinger, Eric, Ramsbottom, Simon A., Molinari, Elisa, Miles, Colin G., Sayer, John A.

المساهمون: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, Kidney Research UK, Northern Counties Kidney Research Fund

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 12 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.1603Test

المؤلفون: Powell, Laura, Olinger, Eric, Wedderburn, Sarah, Ramakumaran, Vijayalakshmi Salem, Kini, Usha, Clayton-Smith, Jill, Ramsden, Simon C, Rice, Sarah J, Barroso-Gil, Miguel, Wilson, Ian, Cowley, Lorraine, Johnson, Sally, Harris, Elizabeth, Montgomery, Tara, Bertoli, Marta, Boltshauser, Eugen, Sayer, John A

المصدر: Brain Communications ; volume 3, issue 3 ; ISSN 2632-1297

الإتاحة: https://doi.org/10.1093/braincomms/fcab163Test
https://academic.oup.com/braincomms/article-pdf/3/3/fcab163/41728303/fcab163.pdfTest