المؤلفون: Matt Wenham, Samantha Grieve, Michelle Cummins, Matthew L. Jones, Sarah Booth, Rachel Kilner, Philip J. Ancliff, Gillian M. Griffiths, Andrew D. Mumford

المصدر: Haematologica, Vol 95, Iss 2 (2010)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/5507Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/01897d01ce874b15b3fba6dc3d45174eTest

المؤلفون: Sebastian Fuchs, Ingeborg Krägeloh-Mann, Katja Martina Eckl, Kai Lehmberg, Ansgar Schulz, Julia Bank, Gillian M. Griffiths, Peter Nürnberg, Roswitha Plank, Udo zur Stadt, Klaus Niethammer, Stephan Ehl, Holger Thiele, Hans Christian Hennies, Sandra Ammann, Horst von Bernuth, Nele M. G. Dieckmann, Roland Werner, Janine Altmüller, Samantha Grieve, Anne Strauss

المساهمون: Ehl, Stephan [0000-0002-9265-2721], Apollo - University of Cambridge Repository

المصدر: Blood

مصطلحات موضوعية: 0301 basic medicine, Adaptor Protein Complex 3, Immunology, Fluorescent Antibody Technique, Biology, Transfection, medicine.disease_cause, Biochemistry, Article, 03 medical and health sciences, 0302 clinical medicine, Seizures, medicine, Humans, Exome sequencing, Immunodeficiency, Genetics, Mutation, Platelet storage pool deficiency, Immunologic Deficiency Syndromes, Cell Biology, Hematology, medicine.disease, Null allele, Adaptor Protein Complex delta Subunits, 030104 developmental biology, Hermanski-Pudlak Syndrome, 030220 oncology & carcinogenesis, Albinism, Electrophoresis, Polyacrylamide Gel, Hermansky–Pudlak syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::024db1953f651af41af9fcdebf493a84Test
https://doi.org/10.1182/blood-2015-09-671636Test

المؤلفون: Brigitte Kasper, Udo zur Stadt, Florian Koch, Gudrun Nürnberg, Gritta Janka, Julia Pagel, Christian Becker, Wenke Seifert, Samantha Grieve, Stephan Ehl, Karin Beutel, Andrea Maul-Pavicic, Jan Rohr, Hans Christian Hennies, Julia Strauß, Gillian M. Griffiths

المصدر: The American Journal of Human Genetics. 85:482-492

مصطلحات موضوعية: Male, Genotype, Syntaxin binding protein 2, Biology, Polymorphism, Single Nucleotide, Exocytosis, Lymphohistiocytosis, Hemophagocytic, Article, Munc18 Proteins, Genetics, medicine, Humans, Syntaxin, Missense mutation, Genetics(clinical), UNC13D, Genetics (clinical), Hemophagocytic lymphohistiocytosis, Qa-SNARE Proteins, Degranulation, Chromosome Mapping, Infant, Familial Hemophagocytic Lymphohistiocytosis, medicine.disease, Molecular biology, STX11, Child, Preschool, Mutation, Female, SNARE Proteins, Chromosomes, Human, Pair 19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6feb5400b7d99301a55424f7eae64765Test
https://doi.org/10.1016/j.ajhg.2009.09.005Test

المؤلفون: Rachel Kilner, Andrew D Mumford, Sarah Booth, Matthew L. Jones, Gillian M. Griffiths, Michelle Cummins, Matt Wenham, Philip Ancliff, Samantha Grieve

المصدر: Haematologica. 95:333-337

مصطلحات موضوعية: Male, medicine.medical_specialty, Platelet Function Tests, Adaptor Protein Complex 3, Protein subunit, Biology, AP3B1, Internal medicine, medicine, Humans, Adaptor Protein Complex beta Subunits, Child, CD63, Infant, Signal transducing adaptor protein, Hematology, medicine.disease, Oculocutaneous albinism, Molecular biology, Transmembrane protein, CTL, Phenotype, Endocrinology, Albinism, Oculocutaneous, Hermanski-Pudlak Syndrome, Mutation, Brief Reports, Female, Hermansky–Pudlak syndrome, T-Lymphocytes, Cytotoxic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9156df08a9704e4fd7de8a1e567bf5Test
https://doi.org/10.3324/haematol.2009.012286Test

المؤلفون: Valentina Cetica, Gillian M. Griffiths, Rachel D. Wheeler, Stefania Marcenaro, Alessandra Santoro, Elena Sieni, Kimberly Gilmour, Florian Koch, Udo zur Stadt, Samantha Grieve, Daniela Pende, Maurizio Aricò, Karin Beutel, Fang Zhao

المساهمون: Department Pediatric Hematology Oncology, Azienda Ospedaliero-Universitaria Meyer, Florence, Ematologia A.O. Cervello Villa Sofia, Palermo, Centre for Immunodeficiency, Great Ormond Street Hospital, London, Istituto Nazionale per la Ricerca sul Cancro, Genoa, University of Genoa (UNIGE), Research Institute Children's Cancer Center, Hamburg, Germany, Addenbrooke's Hospital, Cambridge University NHS Trust, University of Hamburg

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (9), pp.595. ⟨10.1136/jmg.2009.075341⟩

مصطلحات موضوعية: Cytotoxicity, Immunologic, Male, medicine.medical_specialty, Biology, medicine.disease_cause, Article, Cell Degranulation, Lymphohistiocytosis, Hemophagocytic, 03 medical and health sciences, 0302 clinical medicine, Munc18 Proteins, Lysosomal-Associated Membrane Protein 1, Immunopathology, Molecular genetics, Genetics, medicine, Humans, Immunoprecipitation, Child, Gene, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, Hemophagocytic lymphohistiocytosis, Mutation, Genetic heterogeneity, Haematology (incl Blood transfusion), Infant, medicine.disease, Flow Cytometry, 3. Good health, Perforin, STX11, 030220 oncology & carcinogenesis, Child, Preschool, Immunology, biology.protein, Female, T-Lymphocytes, Cytotoxic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::258fa5c65b88fb6629e61a0e871fe9cbTest
https://hal.archives-ouvertes.fr/hal-00559606/file/PEER_stage2_10.1136%2Fjmg.2009.075341.pdfTest