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1دورية أكاديمية
المؤلفون: Cullinane, Andrew R., Straatman-Iwanowska, Anna, Seo, Jeong K., Ko, Jae S., Gizewska, Maria, Gliwicz, Dorota, Erdemir, Gulin, Wakabayashi, Yoshiyuki, Barnicoat, Angela, Gissen, Paul, Maher, Eamonn R., Kelly, Deirdre A., Knisely, A. S., Garcia-Cazorla, Angels, Fischler, Bjorn, Chitayat, David, Mandel, Hanna, Hinds, Rupert, Sougrat, Rachid, Tuysuz, Beyhan, Gruszfeld, Dariusz, Song, Kyung S.
مصطلحات موضوعية: arthrogryposis, neonatal cholestasis, vesicular trafficking defect, ARC, renal tubular dysfunction
العلاقة: HUMAN MUTATION; Vol.30 2; E330-E337; http://hdl.handle.net/10371/76995Test
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المؤلفون: Yoshiyuki Wakabayashi, Rupert Hinds, A.S. Knisely, Dorota Gliwicz, Björn Fischler, David Chitayat, Maria Gizewska, Eamonn R. Maher, Andrew R. Cullinane, Rachid Sougrat, Angela Barnicoat, Gulin Erdemir, Paul Gissen, Angels García-Cazorla, Deirdre Kelly, Kyung S. Song, Hanna Mandel, Beyhan Tüysüz, Jae Sung Ko, Jeong K. Seo, Dariusz Gruszfeld, Anna Straatman-Iwanowska
المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Gastroenteroloji Hepatoloji ve Beslenme Bilim Dalı., Erdemir, Gülin
مصطلحات موضوعية: Male, medicine.medical_specialty, Child, preschool, Biology, medicine.disease_cause, Gastroenterology, Germline, Article, Germline mutation, Cholestasis, Renal tubular dysfunction, Internal medicine, Case report, medicine, Vesicular transport protein, Genetics, Humans, Neonatal cholestasis, Genetics (clinical), Arthrogryposis, Mutation, Arc (protein), Kidney diseases, Vps33b, Vesicular transport proteins, Genetics & heredity, Infant, Syndrome, Fibroblasts, Kidney disease, medicine.disease, ARC, Metabolism, Preschool child, Ultrastructure, Vesicular trafficking defect, Renal dysfunction, Gray Platelet Syndrome, Megakaryocytes, Blood Platelets, Fibroblast, medicine.symptom, VPS33B protein, Human, Ethnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df432342aef97506bc12227ad01ffb28Test
http://hdl.handle.net/11452/26358Test
النص الكامل