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by Paternoster, Lavinia and Standl, Marie and Chen, Chih-Mei and Ramasamy, Adaikalavan and Bønnelykke, Klaus and Duijts, Liesbeth and Ferreira, Manuel A and Alves, Alexessander Couto and Thyssen, Jacob P and Albrecht, Eva and Baurecht, Hansjörg and Feenstra, Bjarke and Sleiman, Patrick M A and Hysi, Pirro and Warrington, Nicole M and Curjuric, Ivan and Myhre, Ronny and Curtin, John A and Groen-Blokhuis, Maria M and Kerkhof, Marjan and Sääf, Annika and Franke, Andre and Ellinghaus, David and Fölster-Holst, Regina and Dermitzakis, Emmanouil and Montgomery, Stephen B and Prokisch, Holger and Heim, Katharina and Hartikainen, Anna-Liisa and Pouta, Anneli and Pekkanen, Juha and Blakemore, Alexandra I F and Buxton, Jessica L and Kaakinen, Marika and Duffy, David L and Madden, Pamela A and Heath, Andrew C and Montgomery, Grant W and Thompson, Philip J and Matheson, Melanie C and Le Souëf, Peter and Pourcain, Beate St and Smith, George Davey and Henderson, John and Kemp, John P and Timpson, Nicholas J and Deloukas, Panos and Ring, Susan M and Wichmann, H-Erich and Müller-Nurasyid, Martina and Novak, Natalija and Klopp, Norman and Rodríguez, Elke and McArdle, Wendy and Linneberg, Allan and Menné, Torkil and Nohr, Ellen A and Hofman, Albert and Uitterlinden, André G and van Duijn, Cornélia M and Rivadeneira, Fernando and de Jongste, Johan C and van der Valk, Ralf J P and Wjst, Matthias and Jogi, Rain and Geller, Frank and Boyd, Heather A and Murray, Jeffrey C and Kim, Cecilia and Mentch, Frank and March, Michael and Mangino, Massimo and Spector, Tim D and Bataille, Veronique and Pennell, Craig E and Holt, Patrick G and Sly, Peter and Tiesler, Carla M T and Thiering, Elisabeth and Illig, Thomas and Imboden, Medea and Nystad, Wenche and Simpson, Angela and Hottenga, Jouke-Jan and Postma, Dirkje and Koppelman, Gerard H and Smit, Henriette A and Söderhäll, Cilla and Chawes, Bo and Kreiner-Møller, Eskil and Bisgaard, Hans and Melén, Erik and Boomsma, Dorret I and Custovic, Adnan and Jacobsson, Bo and Probst-Hensch, Nicole M and Palmer, Lyle J and Glass, Daniel and Hakonarson, Hakon and Melbye, Mads and ... and The Genetics of Overweight Young Adults (GOYA) Consortium and Australian Asthma Genetics Consortium (AAGC) and the EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium and Australian Asthma Genetics Consort and EArly Genetics Lifecourse Epidemio and Genetics Overweight Young Adults G and Genetics of Overweight Young Adults (GOYA) Consortium and EArly Genetics & Lifecourse Epidemiology (EAGLE) Consortium and Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Institute of Clinical Sciences, Department of Obstetrics and Gynecology and Sahlgrenska Academy
Nature genetics, ISSN 1546-1718, 12/2011, Volume 44, Issue 2, pp. 187 - 192
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Clinical journal of the American Society of Nephrology, ISSN 1555-905X, 12/2017, Volume 12, Issue 12, pp. 1974 - 1983
Background and objectives Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies... 
Prevalence | Nephronophthisis related ciliopathy | Ciliopathies | Joubert-like syndromes | NEPHREG registry | Bardet-Biedl syndrome | Senior-Løken syndrome | Congenital oculomotor apraxia | Genetic heterogeneity | Kidney diseases, cystic | Homozygote | Kidney failure, chronic | Nephronophthisis (NPH) | Adolescent | Mainzer-Saldino syndrome | Registries | Mutation | COACH syndrome | Nephronophthisis, familial juvenile | Cross-Sectional studies | Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Polyuria - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Ciliopathies - complications | Nervous System Diseases - genetics | Young Adult | Ciliopathies - genetics | Anemia - genetics | Kidney - diagnostic imaging | Ultrasonography | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Female | Glomerular Filtration Rate - genetics | Neoplasm Proteins - genetics | Child | Calmodulin-Binding Proteins - genetics | Kidney Failure, Chronic - physiopathology | Antigens, Neoplasm - genetics | Cross-Sectional Studies | Membrane Proteins - genetics | Kidney Failure, Chronic - genetics | Proteins - genetics | Carrier Proteins - genetics | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Longitudinal Studies | Index Medicus | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
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Nature medicine, ISSN 1546-170X, 02/2012, Volume 18, Issue 3, pp. 375 - 377
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Journal of Cranio-Maxillo-Facial Surgery, ISSN 1010-5182, 2015, Volume 43, Issue 8, pp. 1494 - 1500
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