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1دورية أكاديمية
المؤلفون: Maryam Najafi, Korbinian M. Riedhammer, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Rolf Backofen, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: nephrotic syndrome, Iran, SRNS, ARHGDIA, NUP205, COQ6, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.974840/fullTest; https://doaj.org/toc/2296-2360Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
المصدر: Genes, Vol 12, Iss 6, p 879 (2021)
مصطلحات موضوعية: VCRL, Catel–Manzke, KYNU, CAKUT, renal hypodysplasia, hypoplastic left heart, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Miriam Schmidts
المصدر: Frontiers in Pediatrics, Vol 7 (2019)
مصطلحات موضوعية: Cystinosis, CTNS deletion, Middle East population, Iran, tubulopathy, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fped.2019.00089/fullTest; https://doaj.org/toc/2296-2360Test
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5
المؤلفون: Dinu Antony, Elif Yýlmaz Güleç, Zeineb Bakey, Isabel Schüle, Gwang-Jin Kim, Ilona Skatulla, Toni Cathomen, Han Brunner, Sebastian Arnold, Miriam Schmidts
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::389b83d4c41336e1d87ea7ed208ac2f9Test
https://doi.org/10.21203/rs.3.rs-1825000/v1Test -
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المؤلفون: Maryam Najafi, Korbinian M. Riedhammer, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Rolf Backofen, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, nephrotic syndrome, Iran, SRNS, ARHGDIA, NUP205, COQ6, SGPL1
الإتاحة: https://doi.org/10.3389/fped.2022.974840.s001Test
https://figshare.com/articles/dataset/Table_1_High_detection_rate_for_disease-causing_variants_in_a_cohort_of_30_Iranian_pediatric_steroid_resistant_nephrotic_syndrome_cases_docx/21187417Test -
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المؤلفون: Maryam, Najafi, Dor Mohammad Kordi, Tamandani, Anoush, Azarfar, Zeineb, Bakey, Farkhondeh, Behjati, Dinu, Antony, Isabel, Schüle, Simin, Sadeghi-Bojd, Ehsan Ghayoor, Karimiani, Miriam, Schmidts
المصدر: Frontiers in Pediatrics
مصطلحات موضوعية: Middle East population, tubulopathy, CTNS deletion, Cystinosis, Iran, Pediatrics, Original Research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b5dae6993b8e35afdc9c122a60361327Test
https://pubmed.ncbi.nlm.nih.gov/30949462Test -
8
المؤلفون: Georg Peters, Jörg Wüllenweber, Evgeny A. Idelevich, Karsten Becker, Isabel Schüle, B. Grünastel
المصدر: Journal of Clinical Microbiology. 52:4058-4062
مصطلحات موضوعية: Microbiology (medical), Time Factors, food.ingredient, biology, Inoculation, Gram-positive bacteria, Antimicrobial susceptibility, Bacteriology, Bacteremia, Microbial Sensitivity Tests, Gram-Positive Bacteria, biology.organism_classification, Solid medium, Anti-Bacterial Agents, Specimen Handling, Microbiology, Blood, fluids and secretions, food, Gram-Negative Bacteria, Humans, Agar
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f52a104e69a81a340da3a456a00d8f61Test
https://doi.org/10.1128/jcm.02400-14Test -
9
المؤلفون: Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Miriam Schmidts
المصدر: Frontiers in Pediatrics, 7
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 7 (2019)مصطلحات موضوعية: Lysosomal transport, Cystinosis, Population, 030232 urology & nephrology, Iran, Middle East population, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, medicine, Copy-number variation, Allele, education, Exome sequencing, Loss function, 030304 developmental biology, Genetics, 0303 health sciences, education.field_of_study, Molecular pathology, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, 3. Good health, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], tubulopathy, CTNS deletion, Pediatrics, Perinatology and Child Health, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05819e708791dfced06e1852d0315a5Test