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1دورية أكاديمية
المؤلفون: Doron M. Behar, Lina Basel-Vanagaite, Fabian Glaser, Marielle Kaplan, Shay Tzur, Nurit Magal, Tal Eidlitz-Markus, Yishay Haimi-Cohen, Galit Sarig, Concetta Bormans, Mordechai Shohat, Avraham Zeharia
المصدر: Journal of Lipid Research, Vol 55, Iss 2, Pp 307-312 (2014)
مصطلحات موضوعية: dietary fat, absorption, consanguineous, Arab, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520350380; https://doaj.org/toc/0022-2275
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2دورية أكاديمية
المؤلفون: Lina Basel-Vanagaite, Inderjeet Dokal, Hannah Tamary, Abraham Avigdor, Ben Zion Garty, Alexander Volkov, Tom Vulliamy
المصدر: Haematologica, Vol 93, Iss 6 (2008)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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3
المؤلفون: Dani Bercovich, Shoshana Yakar, D. Steier, E. Mel, R. Solomon-Zemler, L. Bazak, Lina Basel-Vanagaite, Haim Werner, Moshe Phillip, L. de Vries
المصدر: Endocrine Connections, Vol 6, Iss 6, Pp 395-403 (2017)
Endocrine Connectionsمصطلحات موضوعية: 0301 basic medicine, Proband, medicine.medical_specialty, Microcephaly, Endocrinology, Diabetes and Metabolism, insulin-like growth factor-1 (IGF-1), Hypoglycemia, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Short stature, Impaired glucose tolerance, 03 medical and health sciences, Endocrinology, IUGR, Internal medicine, Internal Medicine, medicine, Missense mutation, Insulin-like growth factor 1 receptor, SGA, IGF-1 receptor (IGF1R), lcsh:RC648-665, business.industry, Research, medicine.disease, body regions, hypoglycemia, 030104 developmental biology, Small for gestational age, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dea1012c46da611b31c87c14b91b6958
https://doi.org/10.1530/ec-17-0038 -
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المؤلفون: Reuven Sharony, Ifaat Agmon-Fishman, Shiri Yacobson, Sarit Kahana, Tamar Tenne, Lital Cohen-Vig, Mordechai Shohat, Josepha Yeshaya, Lina Basel-Vanagaite, Idit Maya
المصدر: Ultrasound in Obstetrics & Gynecology. 50:332-335
مصطلحات موضوعية: Down syndrome, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Andrology, 03 medical and health sciences, 0302 clinical medicine, Reproductive Medicine, Predictive value of tests, Nuchal Translucency Measurement, medicine, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Copy-number variation, False positive rate, business, Increased nuchal translucency, Genetic testing, Comparative genomic hybridization
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5
المؤلفون: Vincenzo Salpietro, Matthew Pitt, Qiaohong Ye, Markus Storbeck, Brunhilde Wirth, Ken McElreavey, Weichun Lin, Sharon Aharoni, Sarah Wiethoff, Adnan Y. Manzur, Lina Basel-Vanagaite, Yun Liu, Monika Weisz Hubshman, Andreea Manole, Andrea Delle Vedove, Henry Houlden, Oscar D. Bello, Shyam S. Krishnakumar, James E. Rothman, Anand Saggar, Stephanie Efthymiou
المصدر: Annals of Neurology. 81:597-603
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Transgene, media_common.quotation_subject, Nonsense mutation, Nonsense, Consanguinity, Biology, Neuromuscular junction, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Exome, media_common, Genetics, VAMP1, Congenital myasthenic syndrome, medicine.disease, 3. Good health, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Neurology, Neurology (clinical), 030217 neurology & neurosurgery
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6
المؤلفون: Lina Basel-Vanagaite, Smadar Avigad, L. Hayman-Manzur, M. Weisz Hubshman, K. Shichrur, D. Gaash, Jerry Stein, A. Villa, O. Konen, Ellen Taub, C. Sobacchi, Ben-Zion Garty, Irina Lagovsky, Idit Maya, A. Krauss, Pola Smirin-Yosef, I. Yaniv, Daphna Marom, Mordechai Shohat, Yael Levy
المصدر: Clinical Genetics. 91:902-907
مصطلحات موضوعية: 0301 basic medicine, Severe combined immunodeficiency, Mutation, Cellular differentiation, T cell, Osteopetrosis, Biology, medicine.disease, medicine.disease_cause, Recombination-activating gene, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Immune system, Osteoclast, 030220 oncology & carcinogenesis, Immunology, Genetics, medicine, Cancer research, Genetics (clinical)
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7
المؤلفون: Tamar Tenne, Idit Maya, Josepha Yeshaya, Reuven Sharony, Shiri Yacobson, Alex Levi, Ifaat Agmon-Fishman, Lital Cohen‐Vig, Sarit Kahana, Eyal Reinstein, Lina Basel-Vanagaite
المصدر: Ultrasound in Obstetrics & Gynecology. 49:337-341
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Cardiovascular Abnormalities, Subclavian Artery, Aneuploidy, Prenatal diagnosis, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, medicine, Humans, Radiology, Nuclear Medicine and imaging, 030212 general & internal medicine, Increased nuchal translucency, Choroid plexus cyst, Chromosome Aberrations, Comparative Genomic Hybridization, Fetus, 030219 obstetrics & reproductive medicine, Radiological and Ultrasound Technology, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, General Medicine, medicine.disease, Aneurysm, humanities, Reproductive Medicine, Pregnancy Trimester, Second, Female, Nuchal Translucency Measurement, Trisomy, business, Fetal echocardiography, Echogenic intracardiac focus
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8
المؤلفون: Hannah Tamary, Noam Shomron, Pola Smirin-Yosef, Daphna Weissglas-Volkov, Joseph Meyerovitch, Luba Farberov, Shay Botchan, Tami Zaft, Tal Pelli, Mali Salmon-Divon, Lina Basel-Vanagaite, Irina Lagovsky, Naama Orenstein, Nir Pillar, Ofer Isakov, Lily Bazak
المصدر: Gene. 606:47-52
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Hearing loss, DNA Mutational Analysis, Nephritis, Hereditary, 030105 genetics & heredity, Biology, Craniofacial Abnormalities, 03 medical and health sciences, Elliptocytosis, Exon, Intellectual Disability, Genetics, medicine, Humans, Alport syndrome, Alternative splicing, Elliptocytosis, Hereditary, Proteins, Genetic Diseases, X-Linked, AMMECR1, General Medicine, medicine.disease, 030104 developmental biology, medicine.symptom, Nephrocalcinosis, Gene Deletion
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9
المؤلفون: Lina Basel-Vanagaite, Nehama Zuckerman-Levin, Mali Salmon-Divon, Irina Lagovsky, Pola Smirin-Yosef, Lisa Wiesmüller, Guntram Borck, Yaron Granot, Shay Tzur, Lior Cohen, Juliane Sachsenweger
المصدر: The Journal of Clinical Endocrinology & Metabolism. 102:681-688
مصطلحات موضوعية: 0301 basic medicine, Biallelic Mutation, Heterozygote, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Genetic counseling, Clinical Biochemistry, Gonadal dysgenesis, Context (language use), Consanguinity, Primary Ovarian Insufficiency, Biology, Gonadal Dysgenesis, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Exome, Israel, Child, Alleles, Exome sequencing, Biochemistry (medical), Nuclear Proteins, Proteins, medicine.disease, Pedigree, DNA-Binding Proteins, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Female, Sample collection
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935d3f64f8c24194593781509316c6a6
https://doi.org/10.1210/jc.2016-2714 -
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المؤلفون: Dror Kraus, Ayelet Halevy, Sharon Aharoni, Lina Basel-Vanagaite, Osnat Konen, Hadassa Goldberg-Stern, Rony Cohen, Rachel Straussberg
المصدر: neurogenetics. 17:251-257
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Epilepsies, Myoclonic, Clinical manifestation, Cutis Laxa, 03 medical and health sciences, Cellular and Molecular Neuroscience, Dysgenesis, 0302 clinical medicine, Genetics, Polymicrogyria, Humans, Medicine, Child, Genetics (clinical), business.industry, Siblings, Brain, medicine.disease, Dermatology, Hypotonia, 030104 developmental biology, Palpebral fissure, Connective tissue metabolism, Mutation, Myoclonic epilepsy, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Cutis laxa