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المؤلفون: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M. Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset-Rouviere, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan
المساهمون: Institut Català de la Salut, [Drovandi S] Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany. Division of Nephrology, Dialysis and Transplantation, Department of Internal Medicine, Ospedale Policlinico San Martino and University of Genoa, Genoa, Italy. Division of Nephrology, Dialysis, Transplantation, Giannina Gaslini Children's Hospital, Genoa, Italy. [Lipska-Ziętkiewicz BS] Rare Diseases Centre, Medical University of Gdańsk, Gdańsk, Poland. Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdańsk, Gdańsk, Poland. [Ozaltin F, Gulhan B] Division of Pediatric Nephrology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. [Emma F] Department of Pediatric Subspecialties, Division of Nephrology and Dialysis, Bambino Gesù Childrens Hospital, IRCCS, Rome, Italy. [Boyer O] APHP, Necker-Enfants Malades Hospital, Pediatric Nephrology, MARHEA and SNI Reference Centers, Paris, France. Imagine Institute, Paris University, Paris, France. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Kidney Int. 102, 592-603 (2022)
Scientiaمصطلحات موضوعية: técnicas de investigación::técnicas genéticas::estudios de asociación genética [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Ubiquinone, Mitocondris - Malalties - Aspectes genètics, enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::nefrosis::síndrome nefrótico [ENFERMEDADES], Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Nephrosis::Nephrotic Syndrome [DISEASES], Nutritional and Metabolic Diseases::Metabolic Diseases::Mitochondrial Diseases [DISEASES], Ronyons - Malalties - Aspectes genètics, Coenzyme Q10, Mitochondria, Steroid-resistant Nephrotic Syndrome, Nephrology, Mutation, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Ataxia, Steroids, Investigative Techniques::Genetic Techniques::Genetic Association Studies [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades mitocondriales [ENFERMEDADES], Genetic Association Studies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e1e37391fef1cc876f8e121f4381feTest
http://hdl.handle.net/10852/99032Test -
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المؤلفون: Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, Alexey N. Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Lina Maria Serna Higuita, Alaleh Gheissari, Nazym Nigmatullina, Marcin Tkaczyk, Halina Borzecka, Radovan Bogdanovic, Sevgi Mir, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Cui-Hua Liu, Shu-Zhen Sun, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan
المصدر: Kidney International, 102, 3, pp. 604-612
Kidney Int. 102, 604-612 (2022)
Kidney International, 102, 604-612مصطلحات موضوعية: Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Ubiquinone, Coq2, Coq6, Coq8b, Coq(10) Supplementation Therapy, Eskd, Coenzyme Q(10) Deficiency, Genetic Kidney Disease, Hereditary, Kidney Survival, Outcome, Proteinuria Reduction, Kidney, Proteinuria, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Nephrology, Dietary Supplements, Mutation, Humans, Ataxia, Steroids
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84c27b3e90b69a46a805c20918a32efTest
http://hdl.handle.net/10852/100389Test -
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المؤلفون: Elham Salehi Siavashani, Saeed Talebi, Mitra Nourbakhsh, Mehdi Vafadar, Ali Sharifi-Zarchi, Masoud Garshasbi, Mona Nourbakhsh, Maryam Razzaghy-Azar
المصدر: Clinical biochemistry. 90
مصطلحات موضوعية: Male, 030213 general clinical medicine, medicine.medical_specialty, Heterozygote, Ataxia, Clinical Biochemistry, 030204 cardiovascular system & hematology, medicine.disease_cause, 03 medical and health sciences, Exon, 0302 clinical medicine, Metabolic Diseases, Renal Dialysis, Internal medicine, Medicine, Humans, Ethanol metabolism, Coma, Child, Alcohol dehydrogenase, Mutation, biology, medicine.diagnostic_test, business.industry, Methanol, Metabolic disorder, Alcohol Dehydrogenase, General Medicine, Exons, medicine.disease, Zinc, Endocrinology, Treatment Outcome, Liver, biology.protein, medicine.symptom, business, Liver function tests, Alcoholic Intoxication, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a72f7f33607f52c22fc748137427f807Test
https://pubmed.ncbi.nlm.nih.gov/33539811Test -
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المؤلفون: Rasoul Alizadeh, Rozita Hosseini, Parisa Moeinian, Hasan Otukesh, Sanaz Jamshidi, Mohammad Keramatipour, Saeed Talebi
المصدر: Iranian Biomedical Journal
مصطلحات موضوعية: Proband, Clinical Biochemistry, Case Report, Aminopeptidases, General Biochemistry, Genetics and Molecular Biology, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Nephronophthisis, Polyuria, Exome Sequencing, Medicine, Humans, Child, Exome sequencing, Sanger sequencing, Genetics, 0303 health sciences, Base Sequence, 030306 microbiology, business.industry, Biochemistry (medical), Whole exome sequencing, Kidney Diseases, Cystic, medicine.disease, XPNPEP3, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Mutation, symbols, Female, medicine.symptom, business, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d4ffc8367d1deb60937793e46b33fdTest
https://pubmed.ncbi.nlm.nih.gov/32660933Test -
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المؤلفون: Saeed Talebi, Zahra Noroozi, Maryam Eghbali, Ali Rabbani, Mehri Najafi, Fatemeh Yazarlou, Mohammad Hossein Modarressi, Marjan Shakiba, Maryam Abiri, Hosein Alimadadi, Parastoo Rostami
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)مصطلحات موضوعية: G6PC, Genotype-phenotype correlation, Monosaccharide Transport Proteins, lcsh:Medicine, Context (language use), Biology, Glycogen Storage Disease Type I, Iran, Antiporters, Frameshift mutation, Genotype, medicine, Missense mutation, Glycogen storage disease, Humans, Pharmacology (medical), Gene, Genetics (clinical), Genetic Association Studies, Genetics, Research, lcsh:R, General Medicine, medicine.disease, Autozygosity mapping, Phenotype, Mutation, Microsatellite, Novel variants, GSD1b
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f7e4bddde56a9a84dffe43945d8f3cTest
http://europepmc.org/articles/PMC6995048Test -
6Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes
المؤلفون: Mohammad Keramatipour, Saeed Talebi, Seyede Zahra Sajedi, Golnaz-Ensieh Kazemi-sefat, Seyyed Mojtaba Mohaddes Ardebili, Masoumeh Razipour, Aria Setoodeh, Neda Mohajer, Jalal Gharesouran, Mona Entezam, Elaheh Alavinejad
المصدر: Metabolic Brain Disease. 32:1685-1691
مصطلحات موضوعية: 0301 basic medicine, Genotype, Phenylalanine hydroxylase, Mutant, Locus (genetics), Minisatellite Repeats, Iran, Gene mutation, Polymerase Chain Reaction, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, Gene Frequency, Phenylketonurias, Prevalence, Humans, Allele, Gene, Genetics, biology, Phenylalanine Hydroxylase, Molecular biology, Introns, 030104 developmental biology, Haplotypes, Mutation, biology.protein, Female, Allelic heterogeneity, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b402763adaaca7fb7a2b6220a12bb1bTest
https://doi.org/10.1007/s11011-017-0048-7Test -
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المؤلفون: Elaheh, Alavinejad, Seyede Zahra, Sajedi, Masoumeh, Razipour, Mona, Entezam, Neda, Mohajer, Aria, Setoodeh, Saeed, Talebi, Mohammad, Keramatipour
المصدر: Avicenna Journal of Medical Biotechnology
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Phenylalanine hydroxylase, Phenylketonurias, Mutation, Population, Original Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::46164903227883123ff8dab203a92869Test
https://pubmed.ncbi.nlm.nih.gov/28706611Test -
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المؤلفون: Maryam Abiri, Hassan Vahidnezhad, Tina Shirzad, Shadab Salehpour, Saeed Talebi, Leila Youssefian, Jouni Uitto, Sirous Zeinali
المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 29(10)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, beta-Hexosaminidase beta Chain, Consanguinity, Sandhoff disease, Iran, medicine.disease_cause, Compound heterozygosity, Polymerase Chain Reaction, 03 medical and health sciences, Endocrinology, Maple Syrup Urine Disease, Phenylketonurias, Medicine, Humans, Amino Acid Sequence, Genetic Testing, Genetic testing, Mutation, medicine.diagnostic_test, Sequence Homology, Amino Acid, business.industry, Maple syrup urine disease, Infant, Newborn, nutritional and metabolic diseases, Infant, Sandhoff Disease, medicine.disease, HEXB, Pedigree, 030104 developmental biology, Biochemistry, Pediatrics, Perinatology and Child Health, Female, business, Biomarkers, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016c843a0b097086b962e8227ecef41dTest
https://pubmed.ncbi.nlm.nih.gov/27682710Test -
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المؤلفون: Mehdizadeh Hakkak, A., Keramatipour, M., Saeed Talebi, Brook, A., Tavakol Afshari, J., Raazi, A., Kianifar, H. R.
المصدر: Iranian Journal of Basic Medical Sciences
Europe PubMed Central
Iranian Journal of Basic Medical Sciences, Vol 16, Iss 8, Pp 917-921 (2013)
Scopus-Elsevierمصطلحات موضوعية: PCR, Cystic Fibrosis, lcsh:R, Mutation, lcsh:Medicine, Sequencing, Original Article, CFTR, CFTR Cystic Fibrosis Mutation Sequencing PCR
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::048cc5e811280266642b7d0147b6584eTest
https://pubmed.ncbi.nlm.nih.gov/24106596Test -
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المؤلفون: Hamid-Reza, Kianifar, Saeed, Talebi, Jalil, Tavakkol-Afshari, Mohammad, Esmaili, Behrouz, Davachi, Azam, Brook
المصدر: Archives of Iranian medicine. 10(4)
مصطلحات موضوعية: Male, Aspartic Acid, Glycine, Infant, Newborn, Galactose, Polymerase Chain Reaction, Pedigree, Glucose, Sodium-Glucose Transporter 1, Malabsorption Syndromes, Mutation, Humans, Female, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a71b1f3230143138f5f4297137303498Test
https://pubmed.ncbi.nlm.nih.gov/17903058Test
