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1
المؤلفون: Ehud Even-Or, Adeeb NaserEddin, Hagar Mor-Shaked, Polina Stepensky, Gali Schiesel, Natalia Simanovsky, Irina Zaidman, Orly Elpeleg
المصدر: Bone. 154
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Vacuolar Proton-Translocating ATPases, Histology, Physiology, Anemia, Endocrinology, Diabetes and Metabolism, Disease, Gene mutation, Genotype, medicine, Humans, Sorting Nexins, Exome sequencing, Genetic Association Studies, Retrospective Studies, biology, business.industry, Bone marrow failure, Osteopetrosis, medicine.disease, Mutation, biology.protein, CLCN7, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b42c1de914c5a1d95f59f9c69f80ce4eTest
https://pubmed.ncbi.nlm.nih.gov/34624559Test -
2
المؤلفون: Sebastian Fuchs, Oded Shamriz, Bella Shadur, Polina Stepensky, Orly Elpeleg, Raz Somech, Klaus Warnatz, Caroline von Spee-Mayer, Vered Molho Pessach, Adeeb NaserEddin, Sara Amro, Nisreen Rumman, Baerbel Keller, Omar Abuzaitoun, David Friedmann, Stephan Ehl, Susanne Unger
المصدر: Journal of Clinical Immunology. 38:527-536
مصطلحات موضوعية: 0301 basic medicine, Mutation, Severe combined immunodeficiency, business.industry, medicine.medical_treatment, T cell, Immunology, Hematopoietic stem cell transplantation, medicine.disease_cause, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Immune system, medicine.anatomical_structure, medicine, Immunology and Allergy, IL-2 receptor, business, Exome sequencing, Common gamma chain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dcdfa8f5ba906df5fc5885c7d5c7bfccTest
https://doi.org/10.1007/s10875-018-0514-yTest -
3
المؤلفون: Adeeb NaserEddin, Michael Weintraub, Oded Shamriz, Avraham Shaag, Polina Stepensky, Barak Yaacov, Orly Elpeleg
المصدر: Clinical Genetics. 92:80-85
مصطلحات موضوعية: 0301 basic medicine, Genetics, biology, business.industry, Increased Bone Density, Osteopetrosis, medicine.disease, TCIRG1, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, biology.protein, Medicine, Congenital disease, CLCN7, business, Mendelian disorders, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3765625ac6654b040662dcd7eae65d1cTest
https://doi.org/10.1111/cge.12804Test