المؤلفون: Clara Schott BMSc, Samantha Colaiacovo MSc, Cadence Baker MSc, Matthew A. Weir MD, MSc, Dervla M. Connaughton MD, PhD, MSc

المصدر: Canadian Journal of Kidney Health and Disease, Vol 11 (2024)

مصطلحات موضوعية: Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2054-3581

URL الوصول: https://doaj.org/article/903babd0bb9d43da8a0c1a6d1bccc9dd

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

المؤلفون: Dervla M. Connaughton, Friedhelm Hildebrandt

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:325-343

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4eb36e9fee6a24813368807c8aa71739
https://doi.org/10.1002/ajmg.c.32006

المؤلفون: Sophia Schneider, Luca Schierbaum, Wessel A. C. Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng, Chen‐Han Wilfred Wu, Makiko Nakayama, Dervla M. Connaughton, Nina Mann, Mohamed A. Shalaby, Jameela A. Kari, Sherif ElDesoky, Velibor Tasic, Loai A. Eid, Shirlee Shril, David M. Thal, Friedhelm Hildebrandt

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::79c44c8c809f93aa660e9410e8768f5e
https://doi.org/10.1002/ajmg.a.63241

المؤلفون: Merrill D. Benson, Dervla M. Connaughton, David J. Friedman, David Ginsburg, Friedhelm Hildebrandt, Hannu Jalanko, Helena Kääriäinen, Selina M. Luger, Jennifer J.D. Morrissette, Michal Mrug, Scott Peslak, Martin R. Pollak, Reed E. Pyeritz, Frederic Rahbari Oskoui, Dana V. Rizk, Jacquelyn J. Roth, Takamitsu Saigusa, Farzana Sayani, Jordan A. Shavit, Edward A. Stadtmauer, Kathleen E. Sullivan, Angela C. Weyand

المصدر: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125342

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5144c4db52adeed5230d83168608509f
https://doi.org/10.1016/b978-0-12-812534-2.01002-x

المؤلفون: Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt

المصدر: Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290

مصطلحات موضوعية: urinary tract, ALPHA-PIX, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MUTATIONS, Biology and Life Sciences, General Medicine, monogenic kidney disease, REGULATES BRANCHING MORPHOGENESIS, SEQUENCE, pediatric, All institutes and research themes of the Radboud University Medical Center, Nephrology, NUCLEOTIDE EXCHANGE FACTORS, EXTRACELLULAR-MATRIX, INBRED MOUSE, INTEGRIN-LINKED KINASE, PROTEIN NEPHRONECTIN, MDCK CELL-CULTURE, development, CAKUT

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858

المؤلفون: Dervla M. Connaughton, Friedhelm Hildebrandt

المصدر: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics ISBN: 9780128125342

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::64802df9fca5ec987cfc948e6f66b199
https://doi.org/10.1016/b978-0-12-812534-2.00002-3

المؤلفون: Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Schierbaum, Thomas M. Kitzler, Dervla M. Connaughton, Youying Mao, Rufeng Dai, Makiko Nakayama, Jameela A. Kari, Sherif El Desoky, Mohammed Shalaby, Loai A. Eid, Hazem S. Awad, Velibor Tasic, Shrikant M. Mane, Richard P. Lifton, Michelle A. Baum, Shirlee Shril, Carlos R. Estrada, Friedhelm Hildebrandt

المصدر: Am J Med Genet A

مصطلحات موضوعية: Disease Models, Animal, Mice, Exome Sequencing, Genetics, Animals, Humans, Exome, Spinal Dysraphism, Article, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd15230f58fefe06390714cb145d395d
https://doi.org/10.1002/ajmg.a.62644

المؤلفون: Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt

المصدر: PLoS ONE, Vol 13, Iss 1, p e0191224 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5774751?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/2bc11b7231c74bacbf98e8696e293ebc

المؤلفون: Peter C. Harris, Sarah Khamis, Liam F. Casserly, Robert Carton, Dervla M. Connaughton, Claire Kennedy, Elhussein A. E. Elhassan, Edmund Gilbert, Katherine A. Benson, Sarah R. Senum, Kevin Yachnin, Sarah Cormican, Gianpiero L. Cavalleri, Susan L. Murray, Eoin T. Conlon, Paul V. O’Hara, Matthew D. Griffin, Shane Conlon, Peter J. Conlon, Sally Ann Lynch, Anne M. Molloy, Lawrence C. Brody

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Population, 030232 urology & nephrology, Renal function, Disease, Biology, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Polycystic kidney disease, Humans, Renal replacement therapy, Child, education, Genetics (clinical), Aged, 030304 developmental biology, Polycystic Kidney Diseases, 0303 health sciences, education.field_of_study, Variant type, Middle Aged, medicine.disease, Founder Effect, 3. Good health, Phenotype, Genetic Loci, Child, Preschool, Mutation, Mendelian inheritance, symbols, Medical genetics, Female, Ireland

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb683b6c098e5a13b6858922502a488c
https://doi.org/10.1038/s41431-020-00806-5