Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between PIGV and MPL .

Autor: Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, School of Medicine and University Hospital of Bonn, 53127 Bonn., Vergez F; Department of Biological Hematology, Toulouse-Oncopole University Cancer Institute, Toulouse., Garcia C; Hematology Laboratory, Toulouse University Hospital Center, 31059 Toulouse, France; National Referral Center for Platelets Diseases, and Inserm U1297 and Paul Sabatier University, Institute of Cardiovascular and Metabolic Diseases, Toulouse., Engels H; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital of Bonn, 53127 Bonn., Hundertmark H; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital of Bonn, 53127 Bonn., Ribes D; Department of Nephrology and Organ Transplantation, Toulouse University Hospital Center, 31059 Toulouse, France; Referral Center for Rare Renal Diseases, Toulouse University Hospital Center, 31059 Toulouse., Largeaud L; Department of Biological Hematology, Toulouse-Oncopole University Cancer Institute, Toulouse., Tavitian S; Hematology Department, Toulouse-Oncopole University Cancer Institute, Toulouse., Payrastre B; Hematology Laboratory, Toulouse University Hospital Center, 31059 Toulouse, France; National Referral Center for Platelets Diseases, and Inserm U1297 and Paul Sabatier University, Institute of Cardiovascular and Metabolic Diseases, Toulouse., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University of Bonn, School of Medicine and University Hospital of Bonn, 53127 Bonn., Faguer S; Department of Nephrology and Organ Transplantation, Toulouse University Hospital Center, 31059 Toulouse, France; Referral Center for Rare Renal Diseases, Toulouse University Hospital Center, 31059 Toulouse., Ribes A; Hematology Laboratory, Toulouse University Hospital Center, 31059 Toulouse, France; National Referral Center for Platelets Diseases, and Inserm U1297 and Paul Sabatier University, Institute of Cardiovascular and Metabolic Diseases, Toulouse. ribes.a@chu-toulouse.fr.

Publikováno v: Haematologica [Haematologica] 2022 Aug 01; Vol. 107 (8), pp. 1989-1993. Date of Electronic Publication: 2022 Aug 01.

Frequency stabilization of mode-locked Erbium fiber lasers using pump power control.

Autor: Haverkamp, N.¹ Nils.Haverkamp@ptb.de, Hundertmark, H.², Fallnich, C.², Telle, H. R.¹

Publikováno v: Applied Physics B: Lasers & Optics. Feb2004, Vol. 78 Issue 3/4, p321-324. 4p.

Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

Autor: Windheuser IC; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Becker J; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Cremer K; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Hundertmark H; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Yates LM; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.; Laura M. Yates, Inkosi Albert Letholi Central Hospital and KRISP, University of KwaZulu-Natal, KwaZulu-Natal, South Africa., Mangold E; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Peters S; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Degenhardt F; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany., Ludwig KU; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany., Zink AM; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Rheinische Friedrich-Wilhelms-University, Bonn, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Wohlleber E; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Bertoli M; Northern Genetics Service, Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK., Colombo R; Faculty of Medicine 'Agostino Gemelli', Catholic University of the Sacred Heart, Rome, Italy.; Center for the Study of Rare Hereditary Diseases, CeSMER, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Engels H; Institute of Human Genetics, University of Bonn, University Hospital Bonn, Bonn, Germany.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1021-1031. Date of Electronic Publication: 2020 Feb 17.

Het Agnietenklooster te Zaltbommel : een archeologische begeleiding

Autor: Hundertmark, H., Benthem, A. van

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::27999b4d80777df43ff649adea0fa1ac
https://catalogus.cultureelerfgoed.nl/Details/archeologicalreports/550023115

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Autor: Fritzen D; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany., Becker J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany., Peters S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany., Hundertmark H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany., Kreiß M; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstaedter Landstr. 1, 85764, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Trogerstraße 32, 81675, München, Germany., Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany.; Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Universitätsstr. 1, 40225, Düsseldorf, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.; Institute of Human Genetics, Technische Universität München, Trogerstraße 32, 81675, München, Germany., Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany., Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany., Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany. hartmut.engels@uni-bonn.de.

Publikováno v: Human genetics [Hum Genet] 2018 May; Vol. 137 (5), pp. 401-411. Date of Electronic Publication: 2018 May 23.