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Hela Boudabous

Showing results (11-20 of 18) with videos related to

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BMC Genomics|October 9, 2024
Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North AfricaLatifa Chkioua, Houda El Fissi, Yessine Amri, et al.
Journal of Pediatric Hematology/Oncology|March 15, 2019
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected SibsManel Naifar, Faten Kallel, Faten HadjKacem, et al.
Diagnostic Pathology|May 7, 2022
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosisLatifa Chkioua, Yessine Amri, Chaima Saheli, et al.
Reumatologia Clinica|November 14, 2025
Bone involvement in Gaucher disease: Data from a North African registryZeineb Meddeb, Nour Ben Younes, Houssem Abida, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 16, 2018
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patientsAmel Ben Chehida, Sana Ben Messaoud, Rim Ben Abdelaziz, et al.
Neuropediatrics|October 12, 2018
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young PatientsAmel Ben Chehida, Sana Ben Messaoud, Rim Ben Abdelaziz, et al.
Clinical Genetics|February 24, 2025
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz SyndromeMiriam Essid, Sana Karoui, Mouna Zribi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 15, 2021
Large-scale screening of lipase acid deficiency in at risk populationAbdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
BMC Genomics|October 9, 2024
Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North AfricaLatifa Chkioua, Houda El Fissi, Yessine Amri, et al.
Journal of Pediatric Hematology/Oncology|March 15, 2019
Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected SibsManel Naifar, Faten Kallel, Faten HadjKacem, et al.
Diagnostic Pathology|May 7, 2022
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosisLatifa Chkioua, Yessine Amri, Chaima Saheli, et al.
Reumatologia Clinica|November 14, 2025
Bone involvement in Gaucher disease: Data from a North African registryZeineb Meddeb, Nour Ben Younes, Houssem Abida, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 16, 2018
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patientsAmel Ben Chehida, Sana Ben Messaoud, Rim Ben Abdelaziz, et al.
Neuropediatrics|October 12, 2018
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young PatientsAmel Ben Chehida, Sana Ben Messaoud, Rim Ben Abdelaziz, et al.
Clinical Genetics|February 24, 2025
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz SyndromeMiriam Essid, Sana Karoui, Mouna Zribi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 15, 2021
Large-scale screening of lipase acid deficiency in at risk populationAbdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, et al.
Pageof 2