Ohcanbohtosat - Vicki Robins
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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6 Dahkki Hana Hartmannová, Lenka Piherová, Kateřina Tauchmannová, Kendrah Kidd, Philip D. Acott, John F. S. Crocker, Youcef Oussedik, Marcel Mallet, Kateřina Hodaňová, Viktor Stránecký, Anna Přistoupilová, Veronika Barešová, Ivana Jedličková, Martina Živná, Jana Sovová, Helena Hůlková, Vicki Robins, Marek Vrbacký, Petr Pecina, Vilma Kaplanová, J Houštěk, Tomáš Mráček, Yves Thibeault, Anthony J. Bleyer, Stanislav Kmoch
Almmustuhtton 2016Artigo -
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Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1 Dahkki Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R. Kelsoe, Gerald A. Hladik, Philip J. Klemmer, Stephen J. Knohl, Steven J. Scheinman, Nam S. Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J. Hulick, Kristen J. Vogel, Frederic F. Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, André Mégarbané, Paul L. Kimmel, C. John Sperati, Avi Orr‐Urtreger, Shay Ben‐Shachar, David A. Waugh, Stella McGinn, Anthony J. Bleyer, Kateřina Hodaňová, Petr Vyleťal, Martina Živná, Thomas C. Hart, P. Suzanne Hart
Almmustuhtton 2014Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
Biology
Gene
Genetics
Internal medicine
Kidney
Medicine
Disease
Endocrinology
Fanconi syndrome
Medullary cavity
Mitochondrial DNA
Mitochondrial biogenesis
Mitochondrial disease
Mitochondrion
Molecular biology
Mutation
Presentation (obstetrics)
RNA
RNA splicing
Respiratory chain
Surgery
Tamm–Horsfall protein
Urinary system