المؤلفون: Farid Imanzadeh, Peiman Nasri, Somayeh Sadeghi, Aliakbar Sayyari, Naghi Dara, Karimi Abdollah, Yalda Nilipoor, Mahbubeh Mansuri, Katayoon Khatami, Pejman Rouhani, Beheshteh Olang

المصدر: Journal of Research in Medical Sciences, Vol 20, Iss 9, Pp 855-859 (2015)

مصطلحات موضوعية: Crohn′s disease, food hypersensitivity, inflammatory bowel diseases, pediatrics, ulcerative colitis, Medicine

وصف الملف: electronic resource

العلاقة: http://www.jmsjournal.net/article.asp?issn=1735-1995;year=2015;volume=20;issue=9;spage=855;epage=859;aulast=ImanzadehTest; https://doaj.org/toc/1735-1995Test; https://doaj.org/toc/1735-7136Test

الوصول الحر: https://doaj.org/article/abfe9118434c4c108006314454b2d6cbTest

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/ddac120Test
Human molecular genetics
Human molecular genetics, 31(21), 3729-3740. Oxford University Press

مصطلحات 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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b1dd1a7a9fd8d470fb2eff3d0d9131Test
https://research.vumc.nl/en/publications/0515c80a-a981-4e73-b15c-fb3d70568012Test

المؤلفون: Rami Massie, Carine Bonnard, Ariana Kariminejad, Nasrinsadat Nabavizadeh, Bruno Reversade, Mehrdad Asghari Estiar, Franziska Paul, Shahriar Nafissi, Pui-Mun Wong, Paul P. Van Veldhoven, Hane Lee, Stanley F. Nelson, Calista Keow Leng Ng, Raoul C.M. Hennekam, Ali Reza Tavasoli, Guy A. Rouleau, Yalda Nilipoor, Ziv Gan-Or, Charles B. L. M. Majoie

مصطلحات موضوعية: Germline mutation, Endosome, FYVE domain, Mutant, Missense mutation, Biology, Phenotype, Exome sequencing, Germline, Cell biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9438d329a23a3c4c4dca9de94ac2f939Test
https://doi.org/10.1101/2021.10.03.21264281Test

المؤلفون: Aliakbar Sayyari, Katayoon Khatami, Naghi Dara, Pejman Rouhani, Somayeh Sadeghi, Mahbubeh Mansuri, Yalda Nilipoor, Farid Imanzadeh, Peiman Nasri, Karimi Abdollah, Beheshteh Olang

المصدر: Journal of Research in Medical Sciences : The Official Journal of Isfahan University of Medical Sciences
Scopus-Elsevier
Journal of Research in Medical Sciences, Vol 20, Iss 9, Pp 855-859 (2015)

مصطلحات موضوعية: food hypersensitivity, medicine.medical_specialty, Allergy, pediatrics, lcsh:Medicine, Milk allergy, Disease, Inflammatory bowel disease, Gastroenterology, inflammatory bowel diseases, Food allergy, Internal medicine, Medicine, Colitis, ulcerative colitis, Crohn's disease, business.industry, Crohn′s disease, lcsh:R, food and beverages, General Medicine, medicine.disease, Ulcerative colitis, Original Article, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd344ef4b280dc0f5919d773e4d5568Test
https://pubmed.ncbi.nlm.nih.gov/26759572Test

المؤلفون: Carine Bonnard, Shahriar Nafissi, Charles B. L. M. Majoie, Paul P. Van Veldhoven, Bruno Reversade, Yeng Ting Ng, Raoul C.M. Hennekam, Ariana Kariminejad, Ali Reza Tavasoli, Yalda Nilipoor

المساهمون: ACS - Amsterdam Cardiovascular Sciences, ANS - Amsterdam Neuroscience, Radiology and Nuclear Medicine, Center for Reproductive Medicine, APH - Amsterdam Public Health, Human Genetics

المصدر: American journal of medical genetics. Part A, 167AA(11), 2508-2515. Wiley-Liss Inc.

مصطلحات موضوعية: Male, Adolescent, Genes, Recessive, Consanguinity, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Myopathy, Child, Genetics (clinical), Genetic Association Studies, Muscle Weakness, business.industry, Siblings, Homozygote, Infant, Newborn, Muscle weakness, Chromosome Mapping, Facies, Infant, Anatomy, Syndrome, medicine.disease, Narrow palate, Hyperintensity, Pedigree, Palpebral fissure, Child, Preschool, Female, Chromosomes, Human, Pair 3, medicine.symptom, business, Prominent nose

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c1a616a512897d0831e50a5f82c2aeTest
https://pubmed.ncbi.nlm.nih.gov/26192890Test