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Tytuł :
Variation in coagulation and fibrinolysis genes evaluated for their contribution to cerebrovascular complications in adults with bacterial meningitis in the Netherlands
Autorzy :
Kloek, A.T.
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Źródło :
In Journal of Infection July 2018 77(1):54-59
Czasopismo naukowe
Tytuł :
A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.
Autorzy :
Achour A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Koopmann T; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Castel R; Result Laboratorium, Dordrecht, The Netherlands.
Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Arkesteijn SGJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Ter Huurne J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bisoen S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Verschuren M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Vijfhuizen L; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Schaap R; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Grimbergen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Slomp J; Department of Clinical Chemistry, Medlon/Medisch Spectrum Twente, Enschede, The Netherlands.
Traeger-Synodinos J; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, St. Sophia's Children's Hospital, Athens, Greece.
Vrettou C; Laboratory of Medical Genetics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, St. Sophia's Children's Hospital, Athens, Greece.
Pissard S; Genetic Department, GHU Henri-Mondor, Assistance Publique-Hôpitaux de Paris, UPEC/IMRB - U955 EQ2 and GrEX, Creteil, France; and.
Galacteros F; Red Cell Genetic Disease Unit, GHU Henri-Mondor, Assistance Publique-Hôpitaux de Paris, Université Paris Est/IMRB - U955 EQ2, Créteil, France.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Harteveld CL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło :
Blood [Blood] 2020 Oct 08; Vol. 136 (15), pp. 1789-1793.
Typ publikacji :
Journal Article
Journal Info :
Publisher: American Society of Hematology Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: In Process; Core Clinical (AIM); MEDLINE
Czasopismo naukowe
Tytuł :
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency.
Autorzy :
Saettini F; Fondazione MBBM, University of Milan-Bicocca, Monza, Italy.
Poli C; 3Facultad de Medicina Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile.
Vengoechea J; Department of Medicine, Emory University, Atlanta, United States.
Bonanomi S; Fondazione MBBM, Monza, Italy.
Orellana JC; Hospital de Niños de la Santísima Trinidad, Cordoba, Argentina.
Fazio G; University of Milan Bicocca, Monza, Italy.
Rodriguez FH; Emory University, Atlanta, Georgia, United States.
Noguera LP; Universidad del Desarrollo, Santiago, Chile.
Booth CA; UCL GOSH Institute of Child Health, London, United Kingdom.
Jarur-Chamy V; Universidad del Desarrollo, Santiago, Chile.
Shams M; Emory University, Atlanta, Georgia, United States.
Iascone M; Papa Giovanni XXIII Hospital, Bergamo, Italy.
Vukic M; Leiden University Medical Center, Leiden, Netherlands.
Gasperini S; Fondazione MBBM, University of Milano Bicocca, Monza, Italy.
Quadri M; University of Milan Bicocca, Monza, Italy.
Barroeta Seijas AB; University College London, London, United Kingdom.
Rivers E; UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Mauri M; University of Milano Bicocca, monza, Italy.
Badolato R; University of Brescia, Brescia, Italy.
Cazzaniga G; Centro Ricerca Tettamanti, University of Milan Bicocca, Italy.
Bugarin C; University of Milan Bicocca, Monza, Italy.
Gaipa G; Tettamanti Research center, Monza, Italy.
Kroes W; Leiden University Medical Center, Leiden, Netherlands.
Moratto D; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
van Ostaijen-Ten Dam MM; LUMC, Leiden, Netherlands.
Baas F; Leiden University Medical Center, Leiden, Netherlands.
van der Maarel S; Leiden University Medical Center, Leiden, Netherlands.
Piazza R; University of Milano - Bicocca, Monza, Italy.
Coban-Akdemir Z; Baylor Genetics Laboratory, Houston, TX, United States.
Lupski JR; Baylor-Hopkins Center for Mendelian Genomics, Houston, United States.
Yuan B; Baylor College of Medicine, Houston, Texas, United States.
Chinn IK; Section of Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, TX, United States.
Daxinger L; Leiden University Medical Center, Leiden, Netherlands.
Biondi A; Pediatric Hematology Department, Fondazione MBBM, University of Milan-Bicocca, Italy.
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Źródło :
Blood [Blood] 2020 Sep 09. Date of Electronic Publication: 2020 Sep 09.
Typ publikacji :
Journal Article
Journal Info :
Publisher: American Society of Hematology Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: Core Clinical (AIM); MEDLINE
Czasopismo naukowe
Tytuł :
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Autorzy :
Gravesteijn G; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Dauwerse JG; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Overzier M; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Brouwer G; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Hegeman I; Department of Pathology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Mulder AA; Department of Cell and Chemical Biology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Kruit MC; Department of Radiology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Terwindt GM; Department of Neurology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
van Duinen SG; Department of Pathology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Jost CR; Department of Cell and Chemical Biology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Aartsma-Rus A; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Lesnik Oberstein SAJ; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Jul 21; Vol. 29 (11), pp. 1853-1863.
Typ publikacji :
Journal Article
Journal Info :
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum. Mol. Genet. Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.
Autorzy :
den Heijer JM; Centre for Human Drug Research, Leiden, The Netherlands.; Leiden University Medical Center, Leiden, The Netherlands.
Cullen VC; Lysosomal Therapeutics Inc, Cambridge, Massachusetts, USA.
Quadri M; Erasmus Medical Center, Rotterdam, The Netherlands.; Janssen Vaccines and Prevention, Leiden, The Netherlands.
Schmitz A; GenomeScan B.V., Leiden, The Netherlands.
Hilt DC; Lysosomal Therapeutics Inc, Cambridge, Massachusetts, USA.
Lansbury P; Lysosomal Therapeutics Inc, Cambridge, Massachusetts, USA.
Berendse HW; Amsterdam University Medical Centers, Amsterdam, The Netherlands.
van de Berg WDJ; Amsterdam University Medical Centers, Amsterdam, The Netherlands.
de Bie RMA; Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Boertien JM; University Medical Center Groningen, Groningen, The Netherlands.
Boon AJW; Erasmus Medical Center, Rotterdam, The Netherlands.
Contarino MF; Leiden University Medical Center, Leiden, The Netherlands.; Haga Teaching Hospital, The Hague, The Netherlands.
van Hilten JJ; Leiden University Medical Center, Leiden, The Netherlands.
Hoff JI; St. Antonius Ziekenhuis, Nieuwegein, The Netherlands.
van Mierlo T; Spaarne Gasthuis, Haarlem, The Netherlands.
Munts AG; Spaarne Gasthuis, Haarlem, The Netherlands.
van der Plas AA; Alrijne Ziekenhuis, Leiden, The Netherlands.
Ponsen MM; Meander Medical Center, Amersfoort, The Netherlands.
Baas F; Leiden University Medical Center, Leiden, The Netherlands.
Majoor-Krakauer D; Erasmus Medical Center, Rotterdam, The Netherlands.
Bonifati V; Erasmus Medical Center, Rotterdam, The Netherlands.
van Laar T; University Medical Center Groningen, Groningen, The Netherlands.
Groeneveld GJ; Centre for Human Drug Research, Leiden, The Netherlands.; Leiden University Medical Center, Leiden, The Netherlands.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Jul 02. Date of Electronic Publication: 2020 Jul 02.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Czasopismo naukowe
Tytuł :
Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2.
Autorzy :
Bouma MJ; LUMC hiPSC Hotel, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands. Electronic address: .
Orlova V; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.
van den Hil FE; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.
Mager HJ; Department of Cardiology, St. Antonius Hospital, Nieuwegein, 3435 CM, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.
de Knijff P; Department of Human Genetics, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.
Mummery CL; LUMC hiPSC Hotel, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.
Mikkers H; LUMC hiPSC Hotel, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.
Freund C; LUMC hiPSC Hotel, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, 2333 ZC, The Netherlands.
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Źródło :
Stem cell research [Stem Cell Res] 2020 Jul; Vol. 46, pp. 101786. Date of Electronic Publication: 2020 May 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: In Process; MEDLINE
Czasopismo naukowe
Tytuł :
A case of co-occurrence of radiation-induced leukoencephalopathy and CADASIL.
Autorzy :
Donker Kaat L; Department of Clinical Genetics (LDK, FB, SAMJLO), Leiden University Medical Center; Department of Neurology (LDK, JECB), Erasmus MC University Medical Center Rotterdam; Department of Neurology (JCFW-J), Rijnstate Hospital Arnhem; and Department of Radiology (MCK), Leiden University Medical Center.
van der Wielen-Jongen JCF; Department of Clinical Genetics (LDK, FB, SAMJLO), Leiden University Medical Center; Department of Neurology (LDK, JECB), Erasmus MC University Medical Center Rotterdam; Department of Neurology (JCFW-J), Rijnstate Hospital Arnhem; and Department of Radiology (MCK), Leiden University Medical Center.
Kruit MC; Department of Clinical Genetics (LDK, FB, SAMJLO), Leiden University Medical Center; Department of Neurology (LDK, JECB), Erasmus MC University Medical Center Rotterdam; Department of Neurology (JCFW-J), Rijnstate Hospital Arnhem; and Department of Radiology (MCK), Leiden University Medical Center.
Bromberg JEC; Department of Clinical Genetics (LDK, FB, SAMJLO), Leiden University Medical Center; Department of Neurology (LDK, JECB), Erasmus MC University Medical Center Rotterdam; Department of Neurology (JCFW-J), Rijnstate Hospital Arnhem; and Department of Radiology (MCK), Leiden University Medical Center.
Baas F; Department of Clinical Genetics (LDK, FB, SAMJLO), Leiden University Medical Center; Department of Neurology (LDK, JECB), Erasmus MC University Medical Center Rotterdam; Department of Neurology (JCFW-J), Rijnstate Hospital Arnhem; and Department of Radiology (MCK), Leiden University Medical Center.
Lesnik Oberstein SAMJ; Department of Clinical Genetics (LDK, FB, SAMJLO), Leiden University Medical Center; Department of Neurology (LDK, JECB), Erasmus MC University Medical Center Rotterdam; Department of Neurology (JCFW-J), Rijnstate Hospital Arnhem; and Department of Radiology (MCK), Leiden University Medical Center.
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Źródło :
Neurology. Clinical practice [Neurol Clin Pract] 2020 Jun; Vol. 10 (3), pp. e19-e21.
Typ publikacji :
Case Reports
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 Subsets: PubMed not MEDLINE
Raport

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