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المؤلفون: Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari, Shahriar Nafissi, Yalda Nilipoor, Ali Reza Tavasoli, Carine Bonnard, Pui-Mun Wong, Nasrinsadat Nabavizadeh, Umut Altunoğlu, Mehrdad A Estiar, Charles B Majoie, Hane Lee, Stanley F Nelson, Ziv Gan-Or, Guy A Rouleau, Paul P Van Veldhoven, Rami Massie, Raoul C Hennekam, Ariana Kariminejad, Bruno Reversade
المساهمون: Radiology and nuclear medicine, ACS - Atherosclerosis & ischemic syndromes, Reversade, Bruno, Nabavizadeh, Nasrinsadat, Altunoğlu, Umut (ORCID 0000-0002-3172-5368 & YÖK ID 126174), Paul, Franziska, Ng, Calista, Mohamad Sahari, Umar Bin, Nafissi, Shahriar, Nilipoor, Yalda, Tavasoli, Ali Reza, Bonnard, Carine, Wong, Pui-Mun, Estiar, Mehrdad A., Majoie, Charles B., Lee, Hane, Nelson, Stanley F., Gan-Or, Ziv, Rouleau, Guy A., Van Veldhoven, Paul P., Massie, Rami, Hennekam, Raoul C., Kariminejad, Ariana, School of Medicine, Radiology and Nuclear Medicine, ACS - Microcirculation, Amsterdam Neuroscience - Neurovascular Disorders, General Paediatrics, APH - Quality of Care
المصدر: Human Molecular Genetics, 31(21), 3729-3740. Oxford University Press
Paul, F, Ng, C, Mohamad Sahari, U B, Nafissi, S, Nilipoor, Y, Tavasoli, A R, Bonnard, C, Wong, P-M, Nabavizadeh, N, Altunoğlu, U, Estiar, M A, Majoie, C B, Lee, H, Nelson, S F, Gan-Or, Z, Rouleau, G A, van Veldhoven, P P, Massie, R, Hennekam, R C, Kariminejad, A & Reversade, B 2022, ' RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder ', Human Molecular Genetics, vol. 31, no. 21, pp. 3729-3740 . https://doi.org/10.1093/hmg/ddac120
Human molecular genetics
Human molecular genetics, 31(21), 3729-3740. Oxford University Pressمصطلحات موضوعية: Vesicular Transport Proteins, General Medicine, Endosomes, Biochemistry and molecular biology, Genetics and heredity, Protein Transport, Intellectual Disability, Mutation, Genetics, Humans, Alleles, Intellectual disability, Lysosomes, Protein transport, Molecular Biology, Genetics (clinical)
وصف الملف: pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b1dd1a7a9fd8d470fb2eff3d0d9131
https://research.vumc.nl/en/publications/0515c80a-a981-4e73-b15c-fb3d70568012