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1دورية أكاديمية
المؤلفون: Dhoha Ben Salah, Mouna Elleuch, Oumeyma Trimeche, Asma Zargni, Fakhri Kallabi, Salma Sakka, Fatma Mnif, Nabila Rekik, Nadia Charfi, Hassen Kamoun, Mouna Mnif Feki, Faten Hadj Kacem, Mohamed Abid
المصدر: Annals of Child Neurology, Vol 32, Iss 2, Pp 130-134 (2024)
مصطلحات موضوعية: achalasia addisonianism alacrimia syndrome, neurologic examination, pallidopyramidal syndrome, electromyography, Internal medicine, RC31-1245, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Amada El-Sabeh, Andreea-Mihaela Mlesnita, Iustin-Tiberius Munteanu, Iasmina Honceriu, Fakhri Kallabi, Razvan-Stefan Boiangiu, Marius Mihasan
المصدر: BMC Genomics, Vol 24, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Paenarthrobacter, Nicotine metabolism, Evolution, Plasmids, Catabolic transposon, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2164
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المصدر: Microbiology resource announcements. 11(6)
مصطلحات موضوعية: Immunology and Microbiology (miscellaneous), Genetics, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e43465d0357b79fb187fbacbba2d8c6d
https://pubmed.ncbi.nlm.nih.gov/35536014 -
4دورية أكاديمية
المؤلفون: Samira, Jebahi, Hassane, Oudadesse, Mongi, Saoudi, Fakhri, Kallabi, Pellen, Pascal, Treq, Rebai, Abdelfatteh, Elfeki, Hassib, Keskes
المصدر: Biotechnology Letters. December 2014 36(12):2571-2579
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5
المؤلفون: Nadia Mahfoudh, Hassen Kamoun, Roger T. Engeli, Fakhri Kallabi, Bochra Ben Rhouma, Leila Keskes, Afif Ben Mahmoud, Alex Odermatt, Neila Belguith
المصدر: The Journal of Steroid Biochemistry and Molecular Biology. 165:86-94
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Tunisia, 17-Hydroxysteroid Dehydrogenases, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Genetic Counseling, 030209 endocrinology & metabolism, Biology, Compound heterozygosity, Polymorphism, Single Nucleotide, Biochemistry, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genotype, medicine, Humans, Child, Molecular Biology, Gene, Genetics, Disorder of Sex Development, 46,XY, Genetic heterogeneity, Haplotype, Infant, Newborn, Infant, Heterozygote advantage, Cell Biology, Micropenis, medicine.disease, Molecular biology, Founder Effect, 030104 developmental biology, Haplotypes, Case-Control Studies, Child, Preschool, Mutation, Molecular Medicine, Female, Microsatellite Repeats, Founder effect
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المؤلفون: Fakhri Kallabi, Bochra Ben Rhouma, Siwar Gargouri Baklouti, Rania Ghorbel, Rahma Felhi, Leila Keskes, Hassen Kamoun
المصدر: Hormone Research in Paediatrics. 86:90-93
مصطلحات موضوعية: 0301 basic medicine, Genetics, Allgrove Syndrome, Splice site mutation, Endocrinology, Diabetes and Metabolism, Point mutation, Intron, Biology, Molecular biology, Exon skipping, Stop codon, 03 medical and health sciences, Exon, 030104 developmental biology, Endocrinology, Pediatrics, Perinatology and Child Health, RNA splicing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b1ec51d29d80b03c057964b04924710
https://doi.org/10.1159/000446539 -
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المؤلفون: Mouna Tabebi, Ghada Ben Salah, Leila Keskes, Naziha Kaabechi, Fakhri Kallabi, Chahnez Triki, Hassen Kamoun, Emna Ellouz
المصدر: Clinica Chimica Acta. 453:141-146
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Tunisia, Genotype, Clinical Biochemistry, Mutation, Missense, Biology, medicine.disease_cause, ATP Binding Cassette Transporter, Subfamily D, Member 1, Biochemistry, 03 medical and health sciences, Exon, Internal medicine, medicine, Adrenal insufficiency, Humans, Missense mutation, Adrenoleukodystrophy, Child, Gene, Genetics, Mutation, Base Sequence, Siblings, Biochemistry (medical), Brain, Exons, General Medicine, Peroxisome, medicine.disease, Magnetic Resonance Imaging, Phenotype, 030104 developmental biology, Endocrinology, ATP-Binding Cassette Transporters, Female
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المؤلفون: Hassen Kamoun, Fakhri Kallabi, Ikhlass Hadj Salem, Hadhami Ben Turkia, Neji Tebib, Amel Ben Chehida, Ghada Ben Salah, Leila Keskes
المصدر: Neuroscience Research. 97:7-12
مصطلحات موضوعية: Male, Tunisia, Adolescent, Biology, medicine.disease_cause, ATP Binding Cassette Transporter, Subfamily D, Member 1, Exon, medicine, Humans, Adrenoleukodystrophy, Genetics, Mutation, Splice site mutation, General Neuroscience, Point mutation, Intron, Brain, Exons, General Medicine, medicine.disease, Molecular biology, Introns, Exon skipping, RNA splicing, ATP-Binding Cassette Transporters
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المؤلفون: Hadhami Ben Turkia, Amel Ben Chehida, Fakhri Kallabi, Faiza Fakhfakh, Neji Tebib, Hassen Kamoun, Ikhlass Hadj Salem, Ghada Ben Salah
المصدر: Neurodegenerative Diseases. 12:207-211
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, genetic structures, nutritional and metabolic diseases, Biology, medicine.disease, eye diseases, White matter, medicine.anatomical_structure, Neurology, Addison's disease, X-linked adrenoleukodystrophy, medicine, Missense mutation, Adrenoleukodystrophy, Identification (biology), Neurology (clinical), Gene
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المؤلفون: Satz Mengensatzproduktion, Madakasira V. Padma, Philipp Mahlknecht, Klaus Seppi, Michael A. Schwarzschild, Neji Tebib, Gabor G. Kovacs, Arno Gasperi, Rajeswari R. Moganty, Heike Stockner, Vishnu Swarup, Ikhlass Hadj Salem, Imola Plangár, Fakhri Kallabi, Albert C. Ludolph, Dénes Zádori, Johann Willeit, Patrick Weydt, Péter Klivényi, Jason D. Warren, Druck Reinhardt Druck Basel, Werner Poewe, Amel Ben Chehida, Levente Szalárdy, Christoph Scherfler, Stefan Kiechl, Matthew P. Frosch, Thomas C. Burdett, Hassen Kamoun, Faiza Fakhfakh, Hadhami Ben Turkia, Gregorio Rungger, Cody A. Desjardins, Michael Nocker, Nikolaus R. McFarland, Ghada Ben Salah, László Vécsei, Achal Kumar Srivastava, Camilla N. Clark, Christoph Schmidauer
المصدر: Neurodegenerative Diseases. 12:I-IV
مصطلحات موضوعية: Neurology, Neurology (clinical)