Hypodysfibrinogenemia: a novel abnormal fibrinogen associated with bleeding and thrombotic complications Y Amri, C Kallel, M Becheur, R Dabboubi, M Elloumi, H Belaaj, ... Clinica Chimica Acta 460, 55-62, 2016 | 13 | 2016 |
A new case of congenital atransferrinemia with a novel splice site mutation: c. 293-63del R Dabboubi, Y Amri, S Yahyaoui, R Mahjoub, CA Sahli, C Sahli, SH Fredj, ... European journal of medical genetics 63 (5), 103874, 2020 | 12 | 2020 |
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme L Chkioua, Y Amri, C Saheli, F Fenni, H Boudabous, H Ben Turkia, ... BMC medical genomics 14, 1-11, 2021 | 10 | 2021 |
Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization Y Amri, H Jouini, M Becheur, R Dabboubi, B Mahjoub, T Messaoud, ... Haemophilia 23 (4), e340-e347, 2017 | 9 | 2017 |
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families Y Amri, NEH Toumi, SH Fredj, P de Moerloose Thrombosis Research 143, 11-16, 2016 | 8 | 2016 |
Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations C Kasmi, Y Amri, S Hadj-Fredj, S Oueslati, M Dabboussi, R Mahjoub, ... Molecular Biology Reports 48, 5923-5933, 2021 | 6 | 2021 |
Glucose-6-phosphate dehydrogenase deficiency in Tunisian jaundiced neonates R Dabboubi, Y Amri, S Hamdi, H Jouini, C Sahli, SH Fredj, KB Salem, ... Annales de biologie clinique 10 (4), 411-416, 2020 | 5 | 2020 |
Res-Net-VGG19: Improved tumor segmentation using MR images based on Res-Net architecture and efficient VGG gliomas grading AB Slama, H Sahli, Y Amri, H Trabelsi Applications in Engineering Science 16, 100153, 2023 | 3 | 2023 |
Molecular characterization of two hypofibrinogenemic patients associated with a novel FGG IVS6+ 23T> A substitution and a previously reported FGB IVS6‐10_16delTTTG deletion Y Amri, R Dabboubi, F Mghaieth, M Zili, T Messaoud, A Casini, ... Haemophilia 26 (4), e194-e197, 2020 | 3 | 2020 |
Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients T Mahmoud, C Sahli, S Hadj Fredj, Y Amri, R Othmani, GS Mohamed, ... Molecular Genetics & Genomic Medicine 10 (10), e2048, 2022 | 2 | 2022 |
Contribution of HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes in exploring ethnic origin of central Tunisians AB Amène Ben Bnina, Amri Yessine, Yasmine El Bahri, Saoussen Chouchene, Nada ... BMC Medical Genomics, 2024 | 1 | 2024 |
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis L Chkioua, Y Amri, C Saheli, W Mili, S Mabrouk, I Chabchoub, ... Diagnostic Pathology 17 (1), 44, 2022 | 1 | 2022 |
Inherited bisalbuminemia with growth hormone deficiency R Dabboubi, Y Amri, C Sahli, SH Fredj, L Essaddam, A Zoghlami, ... Clinical Chemistry and Laboratory Medicine (CCLM) 57 (9), e226-e229, 2019 | 1 | 2019 |
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches Y Amri, R Dabboubi, M Khemiri, E Jebabli, S Hadj Fredj, SB Ahmed, ... Molecular Genetics and Genomics 299 (1), 64, 2024 | | 2024 |
Mucopolysaccharidosis type I: founder effect of the p. P533R mutation in North Africa L Chkioua, H El Fissi, Y Amri, C Sahli, F Bouzid, H Boudabous, N Tbib, ... BMC genomics 25 (1), 948, 2024 | | 2024 |
Vitamin D status and VDR gene polymorphisms in patients with growth hormone deficiency: A case control Tunisian study S Tombari, Y Amri, Y Hasni, SH Fredj, Y Salem, S Ferchichi, L Essaddam, ... Heliyon 10 (14), 2024 | | 2024 |
An efficient Blood pressure estimation algorithm based on machine learning using a mixture of non-contact hand-face PPG signals features Z Mbarki, Y Amri, AB Slama, H Trabelsi, H Seddik 2024 IEEE 7th International Conference on Advanced Technologies, Signal and …, 2024 | | 2024 |
Identification of a novel mutation of Alpha-L-iduronidase gene in Tunisian families M Rebai, L Chkioua, Y Amri, C Sahli, H Fodah, T Massoud, H Boudabous, ... | | 2024 |
Identification of a new mutation in the MEN1 gene responsible for familial primary hyperparathyroidism in a Tunisian family S Oueslati, R Mahjoub, S Hammami, Y Amri, SH Fredj, I Kammoun, ... Clinica Chimica Acta 558, 118286, 2024 | | 2024 |
Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia L Chkioua, Y Amri, C Sahli, T Nasri, MO Miladi, T Massoud, S Laradi, ... | | 2024 |