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1دورية أكاديمية
المؤلفون: Latifa Chkioua, Yessine Amri, Chayma Sahli, Ferdawes Ben Rhouma, Amel Ben Chehida, Neji Tebib, Taieb Messaoud, Hassen Ben Abdennebi, Sandrine Laradi
المصدر: Diabetology & Metabolic Syndrome, Vol 15, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Glycogenosis, Glucose-6-phosphate transporter (SLC37A4), Bioinformatics tool, Mutations, Nutritional diseases. Deficiency diseases, RC620-627
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1758-5996
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2دورية أكاديمية
المؤلفون: Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi
المصدر: Diagnostic Pathology, Vol 17, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Ocular cystinosis, Cornea crystal, Mutations, CTNS, Tunisian families, Pathology, RB1-214
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1746-1596
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3دورية أكاديمية
المؤلفون: Latifa Chkioua, Yessine Amri, Chayma Saheli, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib, Sandrine Laradi
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: Fucosidosis, Alpha-l-fucosidase (FUCA1), Angiokeratoma, Bioinformatics tool, Mutations, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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4دورية أكاديمية
المؤلفون: Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, Imen Chelly, Hela Boudabbous, Hamza Dallali, Crystel Bonnet, Meriem Hechmi, Soumeya Bekri, Nadia Zitouna, Lotfi Zekri, Amel Tounsi, Rym Kefi, Jihene Marrakchi, Olfa Messaoud, Ichraf Kraoua, Sonia Maalej, Ilhem Turki Ben Youssef, Ahlem Ben Hmid, Fabrice Giraudet, Sami Bouchoucha, Neji Tebib, Ghazi Besbes, Christine Petit, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi
المصدر: PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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5دورية أكاديمية
المؤلفون: Latifa Chkioua, Hela Boudabous, Ibtissem Jaballi, Oussama Grissa, Hadhami Ben Turkia, Neji Tebib, Sandrine Laradi
المصدر: Diagnostic Pathology, Vol 13, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Mucopolysaccharidosis type I, α-L-iduronidase, Splice site mutation, Homozygous, Compound heterozygote, Pathology, RB1-214
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Latifa Chkioua, Yessine Amri, Sahli Chaima, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib, Sandrine Laradi
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-1 (2021)
مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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7دورية أكاديمية
المؤلفون: Fahmi Nasrallah, Wiem Zidi, Moncef Feki, Samia Kacem, Neji Tebib, Naziha Kaabachi
المصدر: Pediatrics and Neonatology, Vol 58, Iss 6, Pp 484-489 (2017)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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8
المؤلفون: Taieb Messaoud, Hela Boudabous, Chayma Saheli, Ferdawes Fenni, Sandrine Laradi, Hadhami Ben Turkia, Yessine Amri, Latifa Chkioua, Neji Tebib
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)
BMC Medical Genomicsمصطلحات موضوعية: Genetics, Fucosidosis, Splice site mutation, Alpha-l-fucosidase (FUCA1), Coarse facial features, Research, Biology, QH426-470, medicine.disease, Phenotype, RC31-1245, Frameshift mutation, Genotype, Lysosomal storage disease, medicine, Missense mutation, Bioinformatics tool, Internal medicine, Genetics (clinical), Mutations, Angiokeratoma
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9
المؤلفون: Neji Tebib, Amel Ben Chehida, Rim Ben Abdelaziz, Sameh Haj Taieb, Nizar Tangour, Hatem Azzouz, Moncef Feki
المصدر: Journal of Pediatric Endocrinology and Metabolism. 33:1057-1064
مصطلحات موضوعية: 0301 basic medicine, Morning specimen, business.industry, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Phenylalanine, 030105 genetics & heredity, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Animal science, Metabolic control analysis, Pediatrics, Perinatology and Child Health, Medicine, In patient, business, Morning
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f105ee01dcc3abd17e58839904c46b04
https://doi.org/10.1515/jpem-2020-0025 -
10
المؤلفون: Zeineb Ben Ameur, Neji Tebib, Henda Kachouri, Sana Ben Messaoud, Yosra Sassi, Amel Ben Chehida, Maherzia Ferchichi, Mohamed Slim Abdelmoula, Rim Ben Abdelaziz, Hatem Azzouz
المصدر: Journal of Pediatric Endocrinology and Metabolism. 33:901-913
مصطلحات موضوعية: Adult, Male, Parents, Delayed Diagnosis, Tunisia, Multivariate analysis, Adolescent, Psychometrics, SF-36, Autism Spectrum Disorder, Cross-sectional study, Endocrinology, Diabetes and Metabolism, Population, Time-to-Treatment, 03 medical and health sciences, Social support, 0302 clinical medicine, Endocrinology, Quality of life, Phenylketonurias, Surveys and Questionnaires, 030225 pediatrics, medicine, Humans, Parent-Child Relations, Child, education, Developing Countries, Newborn screening, education.field_of_study, business.industry, Middle Aged, medicine.disease, Health Surveys, Cross-Sectional Studies, Socioeconomic Factors, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, Autism, Female, business, 030217 neurology & neurosurgery, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c221ec2033cb3da20bde0f9e8b2abd72
https://doi.org/10.1515/jpem-2020-0035