يعرض 1 - 10 نتائج من 356 نتيجة بحث عن '"C. Hilger"', وقت الاستعلام: 1.21s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

    المؤلفون: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

    مصطلحات موضوعية: Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2056-7944

    URL الوصول: https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8

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  2. 2
    دورية أكاديمية
    Familial congenital lower urinary tract obstruction (LUTO) suggested by screening for lower urinary tract dysfunction in parents of patients: A descriptive study

    المؤلفون: Fabian Ebach, Pauline Wagner, Raimund Stein, Ramona Dolscheid‐Pommerich, Heiko Reutter, Alina C. Hilger

    المصدر: Health Science Reports, Vol 7, Iss 3, Pp n/a-n/a (2024)

    مصطلحات موضوعية: familial LUTO, IPSS, LUTO, obstructive uropathy, postvoid residual volume, PUV, Medicine

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2398-8835

    URL الوصول: https://doaj.org/article/ae07052b02d747bb98aa6a18bb64ac54

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  3. 3
    دورية أكاديمية
    Long-Term Experience of Arterio-Venous Fistula Surgery in Children on Hemodialysis

    المؤلفون: Veronika Almási-Sperling, Christine Gall, Briain Haney, Nina Latzel, Ferdinand Knieling, Alina C. Hilger, Adrian P. Regensburger, Alexander Meyer, Werner Lang, Ulrich Rother

    المصدر: Journal of Clinical Medicine, Vol 13, Iss 12, p 3577 (2024)

    مصطلحات موضوعية: arterio-venous fistula, children, primary patency, secondary patency, long term, Medicine

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2077-0383/13/12/3577; https://doaj.org/toc/2077-0383

    URL الوصول: https://doaj.org/article/8923c0ddd4644357a9e8451a773f9b86

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  4. 4
    دورية أكاديمية
    Modelling human lower urinary tract malformations in zebrafish

    المؤلفون: Caroline M. Kolvenbach, Gabriel C. Dworschak, Johanna M. Rieke, Adrian S. Woolf, Heiko Reutter, Benjamin Odermatt, Alina C. Hilger

    المصدر: Molecular and Cellular Pediatrics, Vol 10, Iss 1, Pp 1-7 (2023)

    مصطلحات موضوعية: Pediatrics, RJ1-570

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2194-7791

    URL الوصول: https://doaj.org/article/dc620dcacdf24d3b958ada1a32327869

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  5. 5
    دورية أكاديمية
    PKD1L1 Is Involved in Congenital Chylothorax

    المؤلفون: Jonathan B. Whitchurch, Sophia Schneider, Alina C. Hilger, Ricarda Köllges, Jil D. Stegmann, Lea Waffenschmidt, Laura Dyer, Holger Thiele, Bhanupriya Dhabhai, Tikam Chand Dakal, Andreas Müller, Dominic P. Norris, Heiko M. Reutter

    المصدر: Cells, Vol 13, Iss 2, p 149 (2024)

    مصطلحات موضوعية: PKD1L1, chylothorax, congenital, pleural effusion, Cytology, QH573-671

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2073-4409/13/2/149; https://doaj.org/toc/2073-4409

    URL الوصول: https://doaj.org/article/d554dbfd13274092870b1fa5adb831ac

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  6. 6
    دورية أكاديمية
    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    المؤلفون: Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter

    المصدر: Communications Biology, Vol 5, Iss 1, Pp 1-11 (2022)

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2399-3642

    URL الوصول: https://doaj.org/article/3185cad232344b7081367260f4859843

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  7. 7
    دورية أكاديمية
    Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

    المؤلفون: Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt

    المصدر: European Urology Open Science, Vol 44, Iss , Pp 106-112 (2022)

    مصطلحات موضوعية: Congenital anomalies of the kidney and urinary tract, Vesicoureteral reflux, Copy number variation, Whole-exome sequencing, Monogenic disease causation, Renal developmental, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S2666168322008746; https://doaj.org/toc/2666-1683

    URL الوصول: https://doaj.org/article/3efb0bd1ab7841249ffc6b6938766552

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  8. 8
    دورية أكاديمية
    Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

    المؤلفون: Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter

    المصدر: Biomolecules, Vol 13, Iss 7, p 1117 (2023)

    مصطلحات موضوعية: exome analysis, molecular inversion probe, exstrophy, cloacal exstrophy, Microbiology, QR1-502

    وصف الملف: electronic resource

    Relation: https://www.mdpi.com/2218-273X/13/7/1117; https://doaj.org/toc/2218-273X

    URL الوصول: https://doaj.org/article/74b382b7c34646239735014ee1312e5a

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  9. 9
    Les bases de données en allergologie moléculaire

    المؤلفون: C. Klingebiel, C. Hilger, H. Masson, J. Vitte

    المساهمون: Laboratoire Synlab Provence, Luxembourg Institute of Health (LIH), Aix-Marseille Université - École de médecine (AMU SMPM MED), Aix-Marseille Université - Faculté des sciences médicales et paramédicales (AMU SMPM), Aix Marseille Université (AMU)-Aix Marseille Université (AMU), Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Institut Desbrest de santé publique (IDESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

    المصدر: Revue francaise d'allergologie
    Revue francaise d'allergologie, 2022, 62 (7), pp.632-635. ⟨10.1016/j.reval.2022.03.009⟩

    مصطلحات موضوعية: Database, [INFO.INFO-DB]Computer Science [cs]/Databases [cs.DB], Allergen, Base de données, Molecular allergen, Allergène, Immunology and Allergy, Allergène moléculaire, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, AllerData

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19f9bdf052070ce715e8979689c5f618
    https://doi.org/10.1016/j.reval.2022.03.009

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  10. 10
    دورية أكاديمية
    SLC20A1 Is Involved in Urinary Tract and Urorectal Development

    المؤلفون: Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Alina C. Hilger, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Benjamin Odermatt, Heiko Reutter

    المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

    مصطلحات موضوعية: SLC20A1, urinary tract development, kidney formation, zebrafish development, cloacal malformation, functional genetics, Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: https://www.frontiersin.org/article/10.3389/fcell.2020.00567/full; https://doaj.org/toc/2296-634X

    URL الوصول: https://doaj.org/article/9c651c06182b43e58e089d5b84ebbebc

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