Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Buerger, Florian"" wg kryterium: Autor


Wyświetlanie 1-14 z 14
Tytuł :
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Autorzy :
Weng, Patricia L. ()
Majmundar, Amar J. ()
Khan, Kamal ()
Lim, Tze Y. ()
Shril, Shirlee ()
Jin, Gina ()
Musgrove, John ()
Wang, Minxian ()
Ahram, Dina F. ()
Aggarwal, Vimla S. ()
Bier, Louise E. ()
Heinzen, Erin L. ()
Onuchic-Whitford, Ana C. ()
Mann, Nina ()
Buerger, Florian ()
Schneider, Ronen ()
Deutsch, Konstantin ()
Kitzler, Thomas M. ()
Klämbt, Verena ()
Kolb, Amy ()
Pokaż więcej
Temat :
FOCAL segmental glomerulosclerosis
DEVELOPMENTAL delay
NUCLEAR proteins
EPILEPSY
BRAIN diseases
Źródło :
American Journal of Human Genetics. Feb2021, Vol. 108 Issue 2, p357-367. 11p.
Czasopismo naukowe
Tytuł :
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
Autorzy :
Mann N; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Mzoughi S; Methyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore.; Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences and Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
Schneider R; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Kühl SJ; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
Klämbt V; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Lovric S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Mao Y; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Shi S; Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France.
Tan W; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Kühl M; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
Onuchic-Whitford AC; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Treimer E; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Kitzler TM; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Kause F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Schumann S; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Nakayama M; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Buerger F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Shril S; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
van der Ven AT; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Majmundar AJ; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Holton KM; Research Computing, Harvard Medical School, Boston, Massachusetts.
Kolb A; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Rao J; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Jobst-Schwan T; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Mildenberger E; Division of Neonatology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Lennert T; Department of Pediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Kuechler A; Institute of Human Genetics, University of Duisburg-Essen, Essen, Germany.
Wieczorek D; Institute of Human Genetics, Faculty of Medicine, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Gross O; Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, University of Goettingen, Goettingen, Germany.
Ermisch-Omran B; Department of Pediatric Nephrology, University Children's Hospital, Münster, Germany.
Werberger A; Institute of Biochemistry and Molecular Biology, Ulm University, Ulm, Germany.
Skalej M; Institute of Neuroradiology, Otto von Guericke University Magdeburg, Magdeburg, Germany.
Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.; The Egyption Group for Orphan Renal Diseases (EGORD), Cairo, Egypt.
Mane SM; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York.
Kadlec J; Grenoble Alpes University, National Center for Scientific Research (CNRS), French Alternative Energies and Atomic Energy Commission (CEA), Institute of Structural Biology, Grenoble, France.
Guccione E; Methyltransferases in Development and Disease Group, Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore.; Mount Sinai Center for Therapeutics Discovery, Departments of Pharmacological Sciences and Oncological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, New York.
Schmeisser MJ; Institute for Microscopic Anatomy and Neurobiology, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.; Focus Program Translational Neurosciences, University Medical Center, Johannes Gutenberg University of Mainz, Mainz, Germany.
Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany .
Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts .
Pokaż więcej
Źródło :
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2021 Mar; Vol. 32 (3), pp. 580-596. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.
Autorzy :
Klämbt V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Mao Y; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Nephrology Department, Shanghai Children's Medical Center, Shanghai Jiaotong University, Shanghai, China.
Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Shamseldin H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Deutsch K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Nakayama M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hugo H; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Widmeier E; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Tan W; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Rehm HL; Program in Medical and Population Genetics, Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA.
Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine Alfaisal University, Riyadh, Saudi Arabia.
Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Pokaż więcej
Źródło :
Kidney international reports [Kidney Int Rep] 2020 Dec 03; Vol. 6 (2), pp. 460-471. Date of Electronic Publication: 2020 Dec 03 (Print Publication: 2021).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Autorzy :
Mao Y; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Department of Nephrology, Shanghai Children's Medical Center, Shanhai Jiaotong University, Shanghai, China.
Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
van der Ven PFM; Institute for Cell Biology, Department of Molecular Cell Biology, University of Bonn, Bonn, Germany.
Assent M; Institute for Cell Biology, Department of Molecular Cell Biology, University of Bonn, Bonn, Germany.
Lohanadan K; Institute for Cell Biology, Department of Molecular Cell Biology, University of Bonn, Bonn, Germany.
Klämbt V; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Buerger F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Kitzler TM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Deutsch K; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Nakayama M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Majmundar AJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Mann N; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hermle T; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Onuchic-Whitford AC; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Renal Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Zhou W; Department of Nephrology, Shanghai Children's Medical Center, Shanhai Jiaotong University, Shanghai, China.
Margam NN; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada.
Duncan R; Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia, Canada.
Marquez J; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Khokha M; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Fathy HM; Department of Pediatrics, Alexandria Faculty of medicine, Alexandria University, Alexandria, Egypt.
Kari JA; Department of Pediatrics, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
El Desoky S; Department of Pediatrics, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.; Pediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Eid LA; Pediatric Nephrology Department, Dubai Kidney Center of Excellence, Dubai Hospital, Dubai, United Arab Emirates.
Awad HS; Pediatric Nephrology Department, Dubai Kidney Center of Excellence, Dubai Hospital, Dubai, United Arab Emirates.
Al-Saffar M; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; United Arab Emirates University, Abu Dhabi, United Arab Emirates.
Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.
Fürst DO; Institute for Cell Biology, Department of Molecular Cell Biology, University of Bonn, Bonn, Germany.
Shril S; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Pokaż więcej
Źródło :
Kidney international reports [Kidney Int Rep] 2020 Nov 10; Vol. 6 (2), pp. 472-483. Date of Electronic Publication: 2020 Nov 10 (Print Publication: 2021).
Typ publikacji :
Journal Article
Czasopismo naukowe
    Wyświetlanie 1-14 z 14

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies