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المؤلفون: Naoya Morisada, Tomoko Horinouchi, Tomohiko Yamamura, Kenji Ishikura, Kandai Nozu, China Nagano, Kazumoto Iijima, Nana Sakakibara, Riku Hamada
المصدر: Pediatrics International. 62(4):428-437
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, HNF1B, Genotype, Congenital chloride diarrhea, Hearing Loss, Sensorineural, Metabolic alkalosis, Hypokalemia, Bartter syndrome, Hypocalciuria, Tubulopathy, Pregnancy, medicine, Humans, pseudo-Gitelman syndrome, Solute Carrier Family 12, Member 1, pseudo-Bartter syndrome, business.industry, Alkalosis, Gitelman syndrome, medicine.disease, Phenotype, Pediatrics, Perinatology and Child Health, Failure to thrive, CASR, Female, Salts, medicine.symptom, business, congenital chloride diarrhea
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::550f5a6401c91fb4d827e9e8b4063947Test
http://www.lib.kobe-u.ac.jp/handle_kernel/90007099Test -
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المؤلفون: Sevgi Pekcan, Sevgi Bilgic Eltan, Melih Hangül, Hadice Selimoglu Sen, Ali Özdemir, Demet Can, Ozge Yilmaz, Zeynep Tamay, Mehmet Köse, Velat Şen, Haluk Cokugras, Hasan Yuksel, Ayşe Süleyman, Cem Murat Bal, Erdem Topal, Hakan Yazan, Abdurrahman Erdem Başaran, Ayse Tana Aslan, Ayşen Bingöl, Güzin Cinel, Ugur Ozcelik, Fazil Orhan, Nazan Cobanoglu, Derya Ufuk Altintas, Ebru Yalcin, Lina AlShadfan, Nural Kiper, Ayse Ayzit Kilinc, Zeynep Gökçe Gayretli Aydın, Gokcen Dilsa Tugcu, Ayşe Şenay Şaşihüseyinoğlu, Nagehan Emiralioglu, Şükrü Çekiç, Erkan Cakir, Tugba Sismanlar Eyuboglu, Ömür Ercan, Gönül Çaltepe, Deniz Dogru, Ozlem Keskin, Nihat Sapan, Tugba Ramasli Gursoy
المساهمون: Ondokuz Mayıs Üniversitesi, Department of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey, Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Department of Pediatric Pulmonology, Faculty of Medicine, Bezmialem Vakif University, İstanbul, Turkey, Department of Pediatric Pulmonology, Faculty of Medicine, Ankara University, Ankara, Turkey, Department of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey, Department of Pediatric Pulmonology, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Turkey, Department of Pediatric Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey, Department of Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey, Department of Pediatric Allergy, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey, Department of Pediatric Allergy and Immunology, Faculty of Medicine, Çukurova University, Adana, Turkey, Department of Pediatric Allergy and Immunology, Faculty of Medicine, Uludag University, Bursa, Turkey, Department of Pediatric Allergy and Pulmonology, Cerrahpasa Medicine Faculty, İstanbul University, İstanbul, Turkey, Department of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey, Department of Pediatric Pulmonology, Mersin City Research & Training Hospital, Mersin, Turkey, Department of Pediatric Pulmonology, Faculty of Medicine, Erciyes University, Kayseri, Turkey, Department of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey, Department of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey, Department of Pediatric Allergy, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, Department of Pediatric Infectious Disease, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, Department of Pediatric Allergy, Faculty of Medicine, İnonu University, Malatya, Turkey, Department of Pediatric Allergy and Immunology, İstanbul Facultyof Medicine, İstanbul University, İstanbul, Turkey, Department of Pediatric Pulmonology, Faculty of Medicine, Balıkesir University, Balıkesir, Turkey, Department of Pediatric Pulmonology, Doctor Lufti Kirdar Kartal Training and Research Hospital, ıstanbul, Turkey, Department of Pediatric Gastroenterology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey, ÇAKIR, Erkan, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Sapan, Nihat, Çekiç, Şükrü, FUI-8766-2022
مصطلحات موضوعية: Newborn screening, Male, Scoring system, Cystic Fibrosis, Turkey, Cystic Fibrosis Transmembrane Conductance Regulator, registry, Pediatrics, Cystic fibrosis, Turkey (republic), cystic fibrosis, Turkey (bird), Registries, Child, Priority journal, Diagnostic test, Register, Sismanlar E., Dogru D., Çakır E., Cobanoglu N., Pekcan S., Cinel G., Yalçın E., Kiper N., Sen V., Selimoglu S., et al., -Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.-, Pediatric pulmonology, 2020, Bacterial colonization, Phenotype, Body mass, Child, Preschool, Female, Forced expiratory volume, Human, Adult, Pulmonary and Respiratory Medicine, Registry, medicine.medical_specialty, Current age, Adolescent, Pseudo Bartter Syndrome, Major clinical study, Bartter syndrome, Respiratory system, Article, Young Adult, Neonatal Screening, Internal medicine, Genetic screening, Genetics, medicine, Humans, In patient, Gene mutation, Disease registry, Pseudo-Bartter syndrome, business.industry, Body Weight, Infant, Newborn, Bartter Syndrome, Infant, Mean age, Alkalosis, Mutational analysis, Newborn, Nonhuman, Colonization status, medicine.disease, Body height, Clinical feature, Preschool child, Mutation, Pediatrics, Perinatology and Child Health, Pseudo-Bartter Syndrome, Comparative study, Complication, business, Controlled study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54f0211fcc042bc48eba114093442f5Test
https://hdl.handle.net/20.500.12712/10045Test -
3دورية أكاديمية
المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., orcid:0000-0002-9574-1842, Sapan, Nihat, Çekiç, Şükrü, FUI-8766-2022, 6602156485, 56117061000
مصطلحات موضوعية: Pediatrics, Respiratory system, Cystic fibrosis, Registry, Pseudo-Bartter Syndrome, Adolescent, Adult, Bartter Syndrome, Body Weight, Child, preschool, Cystic fibrosis transmembrane conductance regulator, Female, Humans, Infant, newborn, Male, Mutation, Neonatal screening, Phenotype, Registries, Turkey, Young adult, Alkalosis, Article, Bacterial colonization, Body height, Body mass, Clinical feature, Comparative study
العلاقة: Makale - Uluslararası Hakemli Dergi; Pediatric Pulmonology; Yurt içi; Sanayi; Eyüboğlu, T. S. vd. (2020). "Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis". Pediatric Pulmonology, 55(8), 2011-2016.; https://doi.org/10.1002/ppul.24805Test; http://hdl.handle.net/11452/30990Test; 000530442700001; 2-s2.0-85085137196; 2011; 2016; 55
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4دورية أكاديمية
المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri/Çocuk Sağlığı ve Hastalıkları Bölümü., orcid:0000-0002-9574-1842, Sapan, Nihat, Çekiç, Şükrü, L-1933-2017, 6602156485, 56117061000
مصطلحات موضوعية: Pediatrics, Respiratory system, Cystic fibrosis, National registry, Patient registry, Pseudo-bartter-syndrome, Cftr gene, Turkish, Mutations, Adolescent, Adult, Child, preschool, Cystic fibrosis transmembrane conductance regulator, Female, Humans, Infant, newborn, Male, Middle aged, Mutation, Neonatal screening, Pseudomonas aeruginosa, Registries, Turkey, Bartter Syndrome, Alkalosis, Antibiotic agent, Azithromycin, Bisphosphonic acid derivative
العلاقة: Makale - Uluslararası Hakemli Dergi; Pediatric Pulmonology; Yurt dışı; Sanayi; Doğru, D. vd. (2019). ''Cystic fibrosis in Turkey: First data from the national registry''. Pediaric Pulmonology, 55(2), 541-548.; https://doi.org/10.1002/ppul.24561Test; http://hdl.handle.net/11452/31712Test; 000495493500001; 2-s2.0-85075130359; 541; 548; 55
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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 -
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المؤلفون: Ayşen Bingöl, Zeynep Tamay, Cem Murat Bal, Haluk Cokugras, Sevgi Pekcan, Abdurrahman Erdem Başaran, Hasan Yuksel, Şenay Şaşihüseyinoğlu, Ayse Tana Aslan, Deniz Dogru, Ali Özdemir, Ayse Ayzit Kilinc, Güzin Cinel, Ugur Ozcelik, Ömür Ercan, Gönül Çaltepe, Şükrü Çekiç, Derya Ufuk Altintas, Gokcen Dilsa Tugcu, Nural Kiper, Nagehan Emiralioglu, Ozge Yilmaz, Erkan Cakir, Mehmet Köse, Tugba Sismanlar, Hakan Yazan, Nazan Cobanoglu, Ebru Yalcin, Fazil Orhan, Lina Muhammed Al Shadfan, Melih Hangül, Erdem Topal, Ozlem Keskin, Ayşe Süleyman, Zeynep Gökçe Gayretli Aydın, Demet Can, Velat Şen, Sevgi Bilgic Eltan, Nihat Sapan, Tugba Ramasli Gursoy, Hadice Selimoglu Sen
المساهمون: Tıp Fakültesi, Ondokuz Mayıs Üniversitesi, ÇAKIR, Erkan, Çukurova Üniversitesi, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri/Çocuk Sağlığı ve Hastalıkları Bölümü., Sapan, Nihat, Çekiç, Şükrü, L-1933-2017, Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Bezmialem University, Istanbul, Turkey, Division of Pediatric Pulmonology, Dr Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Ankara University, Ankara, Turkey, Division of Pediatric Pulmonology, Meram Medicine Faculty, Necmettin Erbakan University, Konya, Turkey, Division of Pediatric Pulmonology, Ankara Children's Hematology Oncology Training and Research Hospital, Ankara, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey, Department of Pulmonology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey, Division of Pediatric Allergy, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Çukurova University, Adana, Turkey, Division of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludağ University, Bursa, Turkey, Division of Pediatric Allergy and Pulmonology, Cerrahpaşa Medicine Faculty, Istanbul University, Istanbul, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Gazi University, Ankara, Turkey, Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey, Division of Pediatric Pulmonology, Mersin City Training and Research Hospital, Mersin, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Erciyes University, Kayseri, Turkey, Division of Pediatric Pulmonology, Gaziantep Cengiz Gökçek Maternity and Children Hospital, Gaziantep, Turkey, Division of Pediatric Pulmonology, Allergy and Immunology, Faculty of Medicine, Celal Bayar University, Manisa, Turkey, Division of Pediatric Allergy, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, Division of Pediatric Infectious Disease, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey, Division of Pediatric Allergy, Faculty of Medicine, İnönü University, Malatya, Turkey, Division of Pediatric Allergy, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, Division of Pediatric Pulmonology, Faculty of Medicine, Balıkesir University, Balıkesir, Turkey, Division of Pediatric Pulmonology, Atatürk Regional Training and Research Hospital, Erzurum, Turkey, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey
مصطلحات موضوعية: Newborn screening, Male, Hemoptysis, Turkey, Turkish, Azithromycin, Pediatrics, Cystic fibrosis, cystic fibrosis, Diabetes mellitus, 0302 clinical medicine, Child death, Corticosteroid, Insulin, Medicine, Child, Gastrostomy, Patient registry, National Registry, Chronic liver disease, Pneumothorax, Dornase alfa, Gastroesophageal reflux, Patient Registry, Ursodeoxycholic acid, Child, Preschool, Bisphosphonic acid derivative, Forced expiratory volume, Human, Pulmonary and Respiratory Medicine, Health care facility, medicine.medical_specialty, Genotype, First data from the national registry.-, Pediatric pulmonology, cilt.55, ss.541-548, 2020 [Dogru D., Çakır E., Şişmanlar T., Çobanoğlu N., Pekcan S., Cinel G., Yalçın E., Kiper N., Şen V., S Ş., et al., -Cystic fibrosis in Turkey], Meconium Ileus, Major clinical study, national registry, Proton pump inhibitor, Article, 03 medical and health sciences, Age, Neonatal Screening, Allergic bronchopulmonary aspergillosis, Genetics, Humans, Access to information, Sinusitis, Genotyping, Demography, Internet, Infant, Missing data, medicine.disease, Gene frequency, Malignant neoplasm, 030228 respiratory system, Pancreas enzyme, Mutation, Osteoporosis, School child, Bronchodilating agent, Complication, Cystic Fibrosis, Cftr gene, Cystic Fibrosis Transmembrane Conductance Regulator, Turkey (republic), patient registry, Information processing, Turkey (bird), Mannitol, Registries, Meconium ileus, Priority journal, Antibiotic agent, Register, Middle Aged, Bacterial colonization, Pseudo-bartter-syndrome, Pseudomonas aeruginosa, Tobramycin, Pseudomonas infection, Female, Mutations, Sweat test, Adult, Adolescent, Sodium chloride, Patient care, Respiratory system, Chloride, Vitamin, 030225 pediatrics, Gene mutation, Disease registry, Colistin, business.industry, Infant, Newborn, Bartter Syndrome, Alkalosis, Newborn, Bartter syndrome, Lung function, Preschool child, Pediatrics, Perinatology and Child Health, Calcium, Data analysis software, National registry, Prediction, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1faccf6e913f3a19a178374b59fcceTest
https://hdl.handle.net/20.500.12462/10481Test -
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المؤلفون: Kazumoto Iijima, Naoya Morisada, Mariko Taniguchi-Ikeda, Natsuki Matsunoshita, Tomohiko Yamamura, Shingo Ishimori, Shogo Minamikawa, Azusa Kawaguchi, Masahide Yoshikane, Takeshi Ninchoji, Keita Nakanishi, Hiroshi Kaito, Ichiro Morioka, Junya Fujimura, Tomoko Horinouchi, Kandai Nozu, Naoya Fujita, Hiroaki Nagase
المصدر: Journal of human genetics. 63(8)
مصطلحات موضوعية: 0301 basic medicine, Diarrhea, Male, Congenital chloride diarrhea, Dent Disease, SLC26A3, Pseudo-Gitelman syndrome, Compound heterozygosity, Bartter syndrome, Diagnosis, Differential, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Humans, 030212 general & internal medicine, Child, Genetics (clinical), Genetic testing, Sanger sequencing, biology, medicine.diagnostic_test, Pseudo-Bartter syndrome, Base Sequence, business.industry, Bartter Syndrome, Infant, Sequence Analysis, DNA, Gitelman syndrome, medicine.disease, 030104 developmental biology, biology.protein, symbols, Targeted sequencing, Next-generation sequencing, Female, business, Gitelman Syndrome, Metabolism, Inborn Errors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c916d4dd13d1599d912bfc4c117d2cTest
https://pubmed.ncbi.nlm.nih.gov/29849040Test -
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المؤلفون: Gordana Vilotijevic-Dautovic, Vesna Stojanović
المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 143, Iss 11-12, Pp 748-751 (2015)
مصطلحات موضوعية: Male, medicine.medical_specialty, Cystic Fibrosis, Hypochloremia, Metabolic alkalosis, lcsh:Medicine, Bartter syndrome, Gastroenterology, Oliguria, Internal medicine, medicine, Humans, Salt intake, pseudo-Bartter syndrome, infants, business.industry, lcsh:R, Bartter Syndrome, Infant, General Medicine, medicine.disease, Hypokalemia, Bartter's syndrome, Endocrinology, Female, medicine.symptom, Hyponatremia, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b91c0ca0663e9a36502de8c37e561b1Test
https://pubmed.ncbi.nlm.nih.gov/26946774Test -
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المؤلفون: Amira Peco-Antic, Zorica Raskovic, Slavica Markovic, Nedeljko Radlovic, Biljana Vuletic, Zoran Igrutinovic, Ana Vujic
المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 139, Iss 9-10, Pp 677-680 (2011)
مصطلحات موضوعية: Diarrhea, Male, medicine.medical_specialty, Urinary system, Metabolic alkalosis, lcsh:Medicine, Renal function, Bartter syndrome, Gastroenterology, chemistry.chemical_compound, Internal medicine, diagnostics, medicine, Humans, pseudo-Bartter syndrome, Creatinine, Aldosterone, business.industry, lcsh:R, Infant, Newborn, Bartter Syndrome, General Medicine, congenital chloride diarrhoea, medicine.disease, Endocrinology, chemistry, Vomiting, Spironolactone, medicine.symptom, business, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49924ec916de2b3183fa5682e8053f5Test
https://doi.org/10.2298/sarh1110677iTest -
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المؤلفون: Satoshi Gando, Tomoyuki Sato, Yosihiro Takeyama, Izumi Matubara, Yuji Morimoto, Mineji Hayakawa
المصدر: Intensive care medicine. 26(11):1711
مصطلحات موضوعية: Coma, medicine.medical_specialty, Pediatrics, Pseudo-Bartter syndrome, business.industry, Tetany, Pain medicine, Humans, Hypokalemia, Coma/etiology, Hypokalemia/complications, Tetany/etiology, Critical Care and Intensive Care Medicine, Bartter syndrome, medicine.disease, Adult, Female, Hypokalemia/etiology, Anesthesiology, Medicine, Bartter Syndrome/complications, medicine.symptom, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33a27bee0172080812e0353240808467Test
http://hdl.handle.net/2115/45377Test