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1دورية أكاديمية
المؤلفون: Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
مصطلحات موضوعية: Bartter syndrome, Whole exome sequencing, Pseudo-Bartter-syndrome, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0981-5Test; https://doaj.org/toc/1750-1172Test
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المؤلفون: Najafi, Maryam, Kordi-Tamandani, Dor Mohammad, Behjati, Farkhondeh, Sadeghi-Bojd, Simin, Bakey, Zeineb, Karimiani, Ehsan Ghayoor, Schüle, Isabel, Azarfar, Anoush, Schmidts, Miriam
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)مصطلحات موضوعية: Male, Research, lcsh:R, Whole exome sequencing, lcsh:Medicine, Bartter Syndrome, Infant, Pseudo-Bartter-syndrome, Iran, Diagnosis, Differential, Chloride Channels, Sulfate Transporters, 11-beta-Hydroxysteroid Dehydrogenase Type 2, Child, Preschool, Exome Sequencing, Humans, Female, Chloride-Bicarbonate Antiporters, Child, Algorithms
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::121ecffb5011c147cee42858aa404283Test
http://europepmc.org/articles/PMC6375149Test