نتائج البحث - "Olinger, Eric"

1

دورية أكاديمية

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

المؤلفون: Hsieh, Tzung-Chien, Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Marchi, Elaine, Martin, Maria Del Pilar Caro, Abdelrazek, Ibrahim, Pantel, Jean Tori, Klinkhammer, Hannah, Hagen, Merle Ten, Thong, Meow-Keong, Mazlan, Rifhan Azwani Binti, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, 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, Vilella, Thainá, Pinheiro, Isabel, Kim, Chong, Melaragno, Maria, 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, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio, Höller, Matthias, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adams, Ronja, Einicke, Lara, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri, Martinez, Marcello, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Lumaka, Aimé, Shinawi, Marwan, Blackburn, Patrick, Wang, Tianyun, Niehues, Tim, Hu, Ping, Waikel, Rebekah, Hanchard, Suzanna Ledgister, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bezieau, Stephane, Arlt, Annabelle, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Mak, Christopher, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen, Mücke, Martin, Verloes, Alain, Schaaf, Christian, Nellåker, Christoffer, Solomon, Benjamin, Nöthen, Markus, Abdalla, Ebtesam, Lyon, Gholson, Krawitz, Peter, Kayserili, Hulya, Toutouna, Louiza, Schmidt, Axel, Roth, Regina, Wieczorek, Dagmar, Olinger, Eric

المصدر: Hsieh , T-C , Lesmann , H , Hustinx , A , Moosa , S , Marchi , E , Martin , M D P C , Abdelrazek , I , Pantel , J T , Klinkhammer , H , Hagen , M T , Thong , M-K , Mazlan , R A B , Tae , S K , Kamphans , T , Meiswinkel , W , Javanmardi , B , Knaus , A , Uwineza , A , Knopp , C , Tkemaladze , T , Elbracht , M , Mattern , L , Jamra , R ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest

الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest
https://pure.eur.nl/ws/files/154580872/GestaltMatcher_Database_-_A_global_reference_for_facial_phenotypic_variability_in_rare_human_diseases.pdfTest

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2

دورية أكاديمية

Uromodulin processing in DNAJB11-kidney disease

المؤلفون: Mariniello, Marta, Schiano, Guglielmo, Yoshifuji, Ayumi, Gillion, Valentine, Sayer, John Andrew, Jouret, François, Genkyst Study Group, Le Meur, Yannick, Cornec-Le Gall, Emilie, Olinger, Eric Gregory, Devuyst, Olivier

المصدر: Mariniello, Marta; Schiano, Guglielmo; Yoshifuji, Ayumi; Gillion, Valentine; Sayer, John Andrew; Jouret, François; Genkyst Study Group; Le Meur, Yannick; Cornec-Le Gall, Emilie; Olinger, Eric Gregory; Devuyst, Olivier (2024). Uromodulin processing in DNAJB11-kidney disease. Kidney International, 105(2):376-380.

مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/252242/1/1_s2.0_S0085253823007858_main.pdfTest; info:pmid/38016513; urn:issn:0085-2538

الإتاحة: https://doi.org/10.5167/uzh-25224210.1016/j.kint.2023.11.008Test
https://www.zora.uzh.ch/id/eprint/252242Test/
https://www.zora.uzh.ch/id/eprint/252242/1/1_s2.0_S0085253823007858_main.pdfTest

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النص الكامل

3

دورية أكاديمية

Prevalence and characteristics of genetic disease in adult kidney stone formers.

المؤلفون: Anderegg, Manuel A, Olinger, Eric G, Bargagli, Matteo, Geraghty, Rob, Taylor, Lea, Nater, Alexander, Bruggmann, Rémy, Sayer, John A, Vogt, Bruno, Schaller, André, Fuster, Daniel G

المصدر: Anderegg, Manuel A; Olinger, Eric G; Bargagli, Matteo; Geraghty, Rob; Taylor, Lea; Nater, Alexander; Bruggmann, Rémy; Sayer, John A; Vogt, Bruno; Schaller, André; Fuster, Daniel G (2024). Prevalence and characteristics of genetic disease in adult kidney stone formers. (In Press). Nephrology, dialysis, transplantation Oxford University Press 10.1093/ndt/gfae074

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/195097Test/

الإتاحة: https://doi.org/10.1093/ndt/gfae074Test
https://boris.unibe.ch/195097/1/brainsci-14-00194.pdfTest
https://boris.unibe.ch/195097Test/

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4

دورية أكاديمية

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

المؤلفون: Olinger, Eric, Wilson, Ian J., Orr, Sarah, Barroso-Gil, Miguel, Neatu, Ruxandra, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander

المساهمون: Kidney Research UK, Swiss National Science Foundation, Northern Counties Kidney Research Fund, LifeArc, Medical Research Council

المصدر: Genetics in Medicine Open ; volume 2, page 101834 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101834Test
https://api.elsevier.com/content/article/PII:S2949774424009804?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424009804?httpAccept=text/plainTest

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5

دورية أكاديمية

Monogenic Kidney Diseases in Kidney Transplantation

المؤلفون: Gillion, Valentine, Devresse, Arnaud, Olinger, Eric, Dahlqvist, Géraldine, Demoulin, Nathalie, Godefroid, Nathalie, Claes, Kathleen, Devuyst, Olivier, Kanaan, Nada

المصدر: Kidney International Reports ; volume 9, issue 3, page 549-568 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2023.12.003Test
https://api.elsevier.com/content/article/PII:S246802492301625X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S246802492301625X?httpAccept=text/plainTest

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6

دورية أكاديمية

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease

المؤلفون: Schiano, Guglielmo, Lake, Jennifer, Mariniello, Marta, Schaeffer, Céline, Harvent, Marianne, Rampoldi, Luca, Olinger, Eric, Devuyst, Olivier

المصدر: Schiano, Guglielmo; Lake, Jennifer; Mariniello, Marta; Schaeffer, Céline; Harvent, Marianne; Rampoldi, Luca; Olinger, Eric; Devuyst, Olivier (2023). Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease. EMBO Molecular Medicine:e18242.

مصطلحات موضوعية: Institute of Physiology, Center for Microscopy and Image Analysis, 610 Medicine & health, 570 Life sciences, biology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest; info:pmid/37885358; urn:issn:1757-4676

الإتاحة: https://doi.org/10.5167/uzh-23916610.15252/emmm.202318242Test
https://www.zora.uzh.ch/id/eprint/239166Test/
https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest

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النص الكامل

7

دورية أكاديمية

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

المؤلفون: Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela, Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., ObeidovÃ¡, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola ME., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., Steet, Richard

المساهمون: UCL - SSS/IREC/NEFR - PÃ´le de NÃ©phrologie, UCL - (MGD) Service de nÃ©phrologie

المصدر: Kidney International, Vol. 104, no. 5, p. 995-1007 (2023)

مصطلحات موضوعية: Nephrology

العلاقة: boreal:277435; http://hdl.handle.net/2078.1/277435Test; urn:ISSN:0085-2538

الإتاحة: https://doi.org/10.1016/j.kint.2023.07.021Test
http://hdl.handle.net/2078.1/277435Test

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8

دورية أكاديمية

Monogenic Kidney Diseases in Kidney Transplantation

المؤلفون: Gillion, Valentine, Devresse, Arnaud, Olinger, Eric, Dahlqvist, GÃ©raldine, Demoulin, Nathalie, Godefroid, Nathalie, Claes, Kathleen, Devuyst, Olivier, Kanaan, Nada

المساهمون: UCL - SSS/IREC/NEFR - PÃ´le de NÃ©phrologie, UCL - (MGD) Service de nÃ©phrologie, UCL - (SLuc) Centre de gÃ©nÃ©tique mÃ©dicale UCL, UCL - SSS/IREC - Institut de recherche expÃ©rimentale et clinique, UCL - (SLuc) Centre de transplantation, UCL - (SLuc) Service de nÃ©phrologie pÃ©diatrique

المصدر: Kidney International Reports, (2023)

مصطلحات موضوعية: Nephrology

العلاقة: boreal:282009; http://hdl.handle.net/2078.1/282009Test; urn:ISSN:2468-0249

الإتاحة: https://doi.org/10.1016/j.ekir.2023.12.003Test
http://hdl.handle.net/2078.1/282009Test

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النص الكامل