المؤلفون: Cullinane, Andrew R., Straatman, Anna Iwanowska, Seo, Jeong K., Ko, Jae S., Song, Kyung S., Gizewska, Maria, Gruszfeld, Dariusz, Gliwicz, Dorota, Tüysüz, Beyhan, Sougrat, Rachid, Wakabayashi, Yoshiyuki, Hinds, Rupert, Barnicoat, Angela, Mandel, Hanna, Chitayat, David, Fischler, Bjorn, Garcia, Angels Cazorla, Knisely, A. S., Kelly, Deirdre A., Maher, Eamonn R., Gissen, Paul

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Gastroenteroloji Hepatoloji ve Beslenme Bilim Dalı., orcid:0000-0002-9726-8219, Erdemir, Gülin, 36015044400

مصطلحات موضوعية: Arthrogryposis, Renal tubular dysfunction, Neonatal cholestasis, ARC, Vesicular trafficking defect, Renal dysfunction, Cholestasis, Vps33b, Mutation, Genetics & heredity, Child, preschool, Fibroblasts, Humans, Infant, Kidney diseases, Male, Syndrome, Vesicular transport proteins, Gray Platelet Syndrome, Megakaryocytes, Blood Platelets, Vesicular transport protein, VPS33B protein, Human, Article, Case report, Ethnology, Fibroblast, Genetics

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Human Mutation; Yurt içi; Yurt dışı; Cullinane, A. R. vd. (2009). "Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome". Human Mutation, 30(2), E330-E337.; https://doi.org/10.1002/humu.20900Test; http://hdl.handle.net/11452/26358Test; 000279979200003; 2-s2.0-64049109733; E330; E337; 30

الإتاحة: https://doi.org/10.1002/humu.20900Test
http://hdl.handle.net/11452/26358Test

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