يعرض 1 - 7 نتائج من 7 نتيجة بحث عن '"Kmoch S"', وقت الاستعلام: 1.63s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المؤلفون: Kmochová T; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Kidd KO; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Orr A; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Hnízda A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Vyleťal P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Naušová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Brinsa V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Sovová J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Barešová V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Svojšová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Vrbacká A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Robins VC; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Taylor A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Martin L; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Rivas-Chavez A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Payne R; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Bleyer HA; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Williams A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Rennke HG; Pathology Department, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Weins A; Pathology Department, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Short PJ; Sano Genetics Limited, London, UK., Agrawal V; Division of Nephrology and Hypertension, Larner College of Medicine, University of Vermont, Burlington, Vermont, USA., Storsley LJ; Department of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada., Waikar SS; Section of Nephrology, Boston University Chobanian and Avedisian School of Medicine, Boston, Massachusetts, USA., McPhail ED; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Dasari S; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Leung N; Division of Nephrology and Hypertension, Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA., Hewlett T; Division of Nephrology, Department of Medicine, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Yorke J; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Gaston D; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Geldenhuys L; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Samuels M; Department of Medicine Université de Montréal, Montreal, Quebec, Canada; Department of Biochemistry, Université de Montréal, Montreal, Quebec, Canada; Centre de Recherche du CHU Ste-Justine, Montreal, Quebec, Canada., Levine AP; Research Department of Pathology, University College London, London, UK., West M; Division of Nephrology, Department of Medicine, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Hůlková H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Institute of Pathology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Pompach P; Institute of Microbiology of the Czech Academy of Sciences, Vestec, Czech Republic., Novák P; Institute of Microbiology of the Czech Academy of Sciences, Vestec, Czech Republic., Weinberg RB; Section on Gastroenterology, Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA; Department of Physiology and Pharmacology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Bedard K; Department of Pathology and Laboratory Medicine, Izaak Walton Killam Hospital, Halifax Nova Scotia, Canada., Živná M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Institute of Pathology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Bleyer AJ Sr; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA. Electronic address: ableyer@wakehealth.edu., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.

    المصدر: Kidney international [Kidney Int] 2024 Apr; Vol. 105 (4), pp. 799-811. Date of Electronic Publication: 2023 Dec 12.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

  2. 2
    تقرير

    المؤلفون: de Haan A; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Eijgelsheim M; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Hennekam E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Živná M; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic., Kmoch S; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Bleyer AJ; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Kidd K; Research Unit of Rare Disease, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Vogt L; Department of Internal Medicine, Section Nephrology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., de Borst MH; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: m.h.de.borst@umcg.nl.

    المصدر: Kidney international [Kidney Int] 2023 May; Vol. 103 (5), pp. 986-989. Date of Electronic Publication: 2023 Mar 22.

    نوع المنشور: Letter; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

  3. 3
    دورية أكاديمية

    المؤلفون: Kim Y; Division of Nephrology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri., Wang Z; Department of Mechanical Engineering and Materials Science, Institute of Materials Science and Engineering, Washington University in St. Louis, St. Louis, Missouri., Li C; Division of Nephrology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri., Kidd K; Section of Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.; Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Wang Y; Department of Mechanical Engineering and Materials Science, Institute of Materials Science and Engineering, Washington University in St. Louis, St. Louis, Missouri., Johnson BG; Pfizer Worldwide Research and Development, Inflammation & Immunology, Cambridge, Massachusetts., Kmoch S; Section of Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.; Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Morrissey JJ; Division of Clinical and Translational Research, Department of Anesthesiology, Washington University in St. Louis, St. Louis, Missouri.; Siteman Cancer Center, Washington University in St. Louis, St. Louis, Missouri., Bleyer AJ; Section of Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina., Duffield JS; Prime Medicine Incorporated, Cambridge, Massachusetts., Singamaneni S; Department of Mechanical Engineering and Materials Science, Institute of Materials Science and Engineering, Washington University in St. Louis, St. Louis, Missouri.; Siteman Cancer Center, Washington University in St. Louis, St. Louis, Missouri., Chen YM; Division of Nephrology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri.

    المصدر: American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2021 Aug 01; Vol. 321 (2), pp. F236-F244. Date of Electronic Publication: 2021 Jul 12.

    نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

    بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901990 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1466 (Electronic) Linking ISSN: 15221466 NLM ISO Abbreviation: Am J Physiol Renal Physiol Subsets: MEDLINE

  4. 4
    دورية أكاديمية

    المؤلفون: Vylet'al P; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia., Kidd K; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Ainsworth HC; Division of Public Health Sciences, Department of Biostatistics and Data Science, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Springer D; Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and the First Faculty of Medicine of Charles University, Prague, Czechia., Vrbacká A; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia., Přistoupilová A; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia., Hughey RP; Renal-Electrolyte Division, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Alper SL; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA., Lennon N; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Harrison S; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Harden M; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Robins V; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Taylor A; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Martin L; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Howard K; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Bitar I; Biomedical Center and Institute of Microbiology, Faculty of Medicine in Pilsen of Charles University, Pilsen, Czechia., Langefeld CD; Division of Public Health Sciences, Department of Biostatistics and Data Science, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Barešová V; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia., Hartmannová H; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia., Hodaňová K; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia., Zima T; Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and the First Faculty of Medicine of Charles University, Prague, Czechia., Živná M; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia., Kmoch S; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Bleyer AJ; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czechia.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

    المصدر: American journal of nephrology [Am J Nephrol] 2021; Vol. 52 (5), pp. 378-387. Date of Electronic Publication: 2021 Jun 07.

    نوع المنشور: Journal Article; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 8109361 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9670 (Electronic) Linking ISSN: 02508095 NLM ISO Abbreviation: Am J Nephrol Subsets: MEDLINE

  5. 5
    دورية أكاديمية

    المؤلفون: Gast C; Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Southwick Hill Road, Cosham, Portsmouth, PO6 3LY, UK. Christine.gast@doctors.org.uk.; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK. Christine.gast@doctors.org.uk., Marinaki A; Purine Research Laboratory, Guys and St Thomas' NHS Foundation Trust, London, UK., Arenas-Hernandez M; Purine Research Laboratory, Guys and St Thomas' NHS Foundation Trust, London, UK., Campbell S; Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Southwick Hill Road, Cosham, Portsmouth, PO6 3LY, UK., Seaby EG; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Pengelly RJ; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Gale DP; UCL Centre for Nephrology, Royal Free Hospital, London, UK., Connor TM; Oxford Kidney Unit, Churchill Hospital, Oxford, UK., Bunyan DJ; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK., Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University Prague, Prague, Czech Republic., Živná M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University Prague, Prague, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University Prague, Prague, Czech Republic., Ennis S; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK., Venkat-Raman G; Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Southwick Hill Road, Cosham, Portsmouth, PO6 3LY, UK.

    المصدر: BMC nephrology [BMC Nephrol] 2018 Oct 30; Vol. 19 (1), pp. 301. Date of Electronic Publication: 2018 Oct 30.

    نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

    بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967793 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2369 (Electronic) Linking ISSN: 14712369 NLM ISO Abbreviation: BMC Nephrol Subsets: MEDLINE

  6. 6
    دورية أكاديمية

    المصدر: Clinical nephrology [Clin Nephrol] 2018 Oct; Vol. 90 (4), pp. 296-301.

    نوع المنشور: Case Reports; Journal Article; Review

    بيانات الدورية: Publisher: Dustri-Verlag Dr. Karl Feistle Country of Publication: Germany NLM ID: 0364441 Publication Model: Print Cited Medium: Internet ISSN: 0301-0430 (Print) Linking ISSN: 03010430 NLM ISO Abbreviation: Clin Nephrol Subsets: MEDLINE

    SCR Disease Name: Adenine phosphoribosyltransferase deficiency

  7. 7
    دورية أكاديمية

    المؤلفون: Bleyer AJ; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA., Kmoch S; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

    المصدر: Kidney international [Kidney Int] 2014 Sep; Vol. 86 (3), pp. 459-61.

    نوع المنشور: Journal Article; Comment

    بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

    SCR Disease Name: Nephropathy, Chronic Tubulointerstitial