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المؤلفون: Winfred C. Wang, Ashley Galvin, Maggie Malsch, Rabi Hanna, Kasiani C. Myers, Edie Weller, Leann Mount, Bonnie W Lau, Kelan Queenan, Robert B. Lorsbach, Taizo A. Nakano, Adrianna Vlachos, Shanshan Liu, Mark D. Fleming, Sarah K. Steltz, Stella M. Davies, Jordan Henry Larson, Sara Loveless, Akiko Shimamura, Elissa Furutani, Sioban Keel, Amy E. Geddis, John M. Gansner, Alison A. Bertuch, Jeffrey M. Lipton
المصدر: Blood Advances
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Clinical Trials and Observations, Cohort Studies, Young Adult, Internal medicine, Humans, Medicine, Platelet, Child, Bone Marrow Diseases, Shwachman–Diamond syndrome, business.industry, Bone marrow failure, Infant, Hematology, Middle Aged, SBDS, medicine.disease, Hematologic Diseases, Shwachman-Diamond Syndrome, Leukemia, Child, Preschool, Exocrine Pancreatic Insufficiency, Hemoglobin, business, Cohort study, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e781b5291a00cc8249c1831deb3cc9aTest
https://doi.org/10.1182/bloodadvances.2021005539Test -
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المؤلفون: Seishi Ogawa, Toshiyuki Kitano, Shojiro Inano, Kensuke Fujiwara, Junya Kanda, Mizuki Watanabe, Sho Shibata, Naoto Kawasaki, Sumie Tabata, Akiko Fukunaga, Akifumi Takaori-Kondo, Hiroo Ueno, Yasuhito Nannya, Yoko Takiuchi, Yoshio Okamoto
المصدر: International Journal of Hematology. 115:428-434
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Shwachman–Diamond syndrome, Mutation, Hematology, business.industry, Myelodysplastic syndromes, Bone marrow failure, Myeloid leukemia, SBDS, medicine.disease, medicine.disease_cause, Leukemia, hemic and lymphatic diseases, Internal medicine, Cancer research, medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::297ddef744e8b076df05c5a5ed1309d1Test
https://doi.org/10.1007/s12185-021-03251-2Test -
3Genetic and Clinical Features of Shwachman-Diamond Syndrome in Russian Population: Prospective Study
المؤلفون: Maria G. Ipatova, Ekaterina A. Deordieva, Oksana A. Shvets, Anna A. Mukhina, Anna A. Moiseeva, Yulya A. Rodina, Petr V. Shumilov, Anna V. Pavlova, Elena V. Raikina, Aliy Yu. Asanov, Maria M. Litvinova, Anna Y. Shcherbina
المصدر: Voprosy Sovremennoj Pediatrii, Vol 18, Iss 5, Pp 393-400 (2020)
مصطلحات موضوعية: medicine.medical_specialty, shwachman-diamond syndrome, Anemia, Neutropenia, Compound heterozygosity, Gastroenterology, Pediatrics, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, children, 030225 pediatrics, Internal medicine, medicine, laboratory signs, Shwachman–Diamond syndrome, medicine.diagnostic_test, business.industry, Elastase, steatorrhea, Complete blood count, sbds gene, SBDS, medicine.disease, cytolysis syndrome, Steatorrhea, Pediatrics, Perinatology and Child Health, symptoms, medicine.symptom, business, stool elastase i
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba80fdc56affb5ce89907a13724d0f4Test
https://vsp.spr-journal.ru/jour/article/view/2239Test -
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المؤلفون: Fatma Dedeoglu, Towia A. Libermann, Kasiani C. Myers, David Andorsky, Amy E. Geddis, Akiko Shimamura, Yu Zhou, Ankoor S. Shah, Yongdong Zhao, Elissa Furutani
المصدر: American Journal of Medical Genetics Part A. 182:1754-1760
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Shwachman–Diamond syndrome, business.industry, Chronic recurrent multifocal osteomyelitis, Bone marrow failure, Arthritis, 030105 genetics & heredity, SBDS, medicine.disease, Gastroenterology, Scleroderma, 03 medical and health sciences, Leukemia, 030104 developmental biology, Internal medicine, Genetics, medicine, Endocrine system, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aad1277dec230f7aaecf3c085b36d9d3Test
https://doi.org/10.1002/ajmg.a.61593Test -
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المؤلفون: Zhao-Shen Li, Hongyu Fu, Jiefang Guo, Yuxin Wang, Yuanhang Dong, Peng Wang, Yiqi Du
المصدر: Surgical Endoscopy. 35:576-583
مصطلحات موضوعية: Adult, Male, Enteroscopy, medicine.medical_specialty, Gastrointestinal bleeding, Abdominal pain, Adolescent, medicine.medical_treatment, Single Center, Gastroenterology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Double-balloon enteroscopy, Internal medicine, Intestine, Small, Humans, Medicine, Prospective Studies, Child, Aged, Retrospective Studies, Aged, 80 and over, Double-Balloon Enteroscopy, medicine.diagnostic_test, business.industry, Middle Aged, SBDS, medicine.disease, Polypectomy, Endoscopy, Intestinal Diseases, Treatment Outcome, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, Surgery, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd7e1386548494cae9de04fa9e8afbTest
https://doi.org/10.1007/s00464-020-07418-6Test -
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المؤلفون: Chad Nusbaum, Melisa Ruiz-Gutierrez, Akiko Shimamura, Cailin E. Joyce, Colin A. Sieff, Inga Hofmann, Assieh Saadatpour, Dolly D. Thomas, Jennifer Whangbo, Kasiani C. Myers, Guo-Cheng Yuan, Towia A. Libermann, Özge Vargel Bölükbaşı, Sarah Young, Lan Jiang, Carl D. Novina
المصدر: Journal of Clinical Investigation. 129:3821-3826
مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Adolescent, Cell, Antigens, CD34, Biology, Monocytes, Transforming Growth Factor beta1, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Bone Marrow, Transforming Growth Factor beta, Internal medicine, medicine, Humans, Cell Lineage, Phosphorylation, Progenitor cell, Child, Inflammation, Hematology, Sequence Analysis, RNA, Concise Communication, Bone marrow failure, Cell Differentiation, General Medicine, SBDS, Hematopoietic Stem Cells, medicine.disease, Shwachman-Diamond Syndrome, Hematopoiesis, Haematopoiesis, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Cancer research, Bone marrow, Stem cell, Granulocytes, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a4e0b4fcac59af6b25b81cb476046c9Test
https://doi.org/10.1172/jci125375Test -
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المؤلفون: Vikas Gupta, Jiong Yan, Heather Bell, Dawn Maze, David A. Weinstein, Santhosh Thyagu, Chantal F Morel, David C. Dale, Anne Tierens, Hanna Faghfoury, Dina Khalaf
المصدر: JIMD Reports
JIMD Reports, Vol 49, Iss 1, Pp 37-42 (2019)مصطلحات موضوعية: lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Case Report, Case Reports, acute myeloid leukemia, medicine.disease_cause, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), G‐CSF, glycogen storage disease, congenital neutropenia, hemic and lymphatic diseases, Internal Medicine, Medicine, Glycogen storage disease, Secondary Acute Myeloid Leukemia, Congenital Neutropenia, Mutation, lcsh:RC648-665, business.industry, cornstarch, Myeloid leukemia, SBDS, medicine.disease, Granulocyte colony-stimulating factor, granulocytic sarcoma, HAX1, lcsh:Genetics, Immunology, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d60f72f6cd99b70fa2f8d659cf3944bTest
http://europepmc.org/articles/PMC6875697Test -
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المؤلفون: Ziqing Ye, Bingbing Wu, Hua Sun, Huijun Wang, Ying Huang, Ying Zhou
المصدر: Pancreas. 47:1344-1349
مصطلحات موضوعية: Male, 0301 basic medicine, China, medicine.medical_specialty, Genotype, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, Gastroenterology, Tertiary Care Centers, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Asian People, Internal medicine, Internal Medicine, medicine, Humans, Exocrine pancreatic insufficiency, Sanger sequencing, Hepatology, business.industry, Infant, Proteins, Sequence Analysis, DNA, SBDS, medicine.disease, Metaphyseal dysplasia, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Failure to thrive, Zinc deficiency, symbols, Exocrine Pancreatic Insufficiency, Female, medicine.symptom, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::306320b778a0513c371ee6404e5f6209Test
https://doi.org/10.1097/mpa.0000000000001185Test -
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المؤلفون: Jean-François Emile, Ilona Okhremchuck, François Delhommeau, Jean Donadieu, C. Bellanné-Chantelot, Faézeh Izadifar-Legrand, Jean-Alain Martignoles, Didier Blaise, Fares bou Mitri, Jean-François Fléjou, Matthieu Patient, Blandine Beaupain
مصطلحات موضوعية: Oncology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Shwachman–Diamond syndrome, business.industry, Cancer, Ovary, SBDS, medicine.disease, Post transplant, medicine.anatomical_structure, hemic and lymphatic diseases, Internal medicine, medicine, Chronic neutropenia, Esophagus, Risk factor, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e7becc6644991606d1519db7ee558671Test
https://doi.org/10.22541/au.160279734.43121127/v1Test -
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المؤلفون: Kazuhiro Yoshioka, Takahisa Mori
المصدر: BMC Emergency Medicine
BMC Emergency Medicine, Vol 20, Iss 1, Pp 1-11 (2020)مصطلحات موضوعية: Male, medicine.medical_specialty, 030309 nutrition & dietetics, lcsh:Special situations and conditions, Dietary supplement, Gastroenterology, Transthyretin, 03 medical and health sciences, Hypoproteinemia, Enteral Nutrition, 0302 clinical medicine, Leucine, Internal medicine, medicine, Humans, BCAA, Aged, Retrospective Studies, Enteral Tube Feeding, Aged, 80 and over, 0303 health sciences, biology, business.industry, lcsh:RC952-1245, Malnutrition, lcsh:Medical emergencies. Critical care. Intensive care. First aid, Albumin, lcsh:RC86-88.9, SBDS, medicine.disease, Stroke, Dietary Supplements, Emergency Medicine, biology.protein, Female, Enteral tube feeding, Severe stroke, business, Biomarkers, 030217 neurology & neurosurgery, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1d4ac89b2e5f9b52f1bac45af8197f5Test
http://europepmc.org/articles/PMC7370442Test