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by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Index Medicus | Life Sciences
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2011, Volume 121, Issue 5, pp. 2013 - 2024
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by Sadowski, Carolin E and Lovric, Svjetlana and Ashraf, Shazia and Pabst, Werner L and Gee, Heon Yung and Kohl, Stefan and Engelmann, Susanne and Vega-Warner, Virginia and Fang, Humphrey and Halbritter, Jan and Somers, Michael J and Tan, Weizhen and Shril, Shirlee and Fessi, Inès and Lifton, Richard P and Bockenhauer, Detlef and El-Desoky, Sherif and Kari, Jameela A and Zenker, Martin and Kemper, Markus J and Mueller, Dominik and Fathy, Hanan M and Soliman, Neveen A and Hildebrandt, Friedhelm and Repetto, H.A and MacTaggart, P and Johnstone, L and Alexander, S and Hodson, E and Mache, C and Jungraithmayr, T.C and Aufricht, C and Arbeiter, K and Lilova, M and Sweeny, C and Filler, G and Licht, C and Chan, S.Y and Skalova, S and Seeman, T and Nuutinen, M and Antignac, C and Briese, S and Querfeld, U and Franke, I and Bachmann, H and Kirschstein, M and Weber, L.T and Hoppe, B and Beck, B.B and Habbig, S and Mayer, B and Büscher, R and Mallmann, R and Vester, U and Latta, K and Pohl, M and Häffner, K and Patzer, L and Henne, T and Pape, L and Schiffer, M and Schwarz, A and Kiepe, D and Schäfer, F and Tönshoff, B and Rönnefarth, G and Strehlau, J.S and Schumacher, M and Beetz, R and Klaus, G and Fehrenbach, H and Kuwertz-Broeking, E and Konrad, M and Schulze-Everding, A and Benz, M.R and Griebel, M and Hoefele, J and Muscheistes, J and Wigger, M and Bald, M and Leichter, H and Reusz, G and Louis, D and Senguttuvan, P and Aravind, R and Padmaraj, R and Manorajan, M and Nampoothiri, S and Sharma, J.S and Bagga, A and Choudry, S and Schreiber, R and Frishberg, Y and Cleper, R and Chenin, G and Gianviti, A and Al-Kandari, F and Tasic, V and Ch'ng, G.S and ... and SRNS Study Grp and SRNS Study Group and the SRNS Study Group
Journal of the American Society of Nephrology, ISSN 1046-6673, 06/2015, Volume 26, Issue 6, pp. 1279 - 1289
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The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 637 - 648
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Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2375 - 2384
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Journal of Clinical Investigation, ISSN 0021-9738, 12/2013, Volume 123, Issue 12, pp. 5179 - 5189
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The American Journal of Human Genetics, ISSN 0002-9297, 01/2015, Volume 96, Issue 1, pp. 153 - 161
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