Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology by Leila El Matri, Farah Ouechtati, Ahmed Chebil, Leila Largueche, Sonia Abdelhak

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Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine by Haifa Jmel, Stefania Sarno, Cristina Giuliani, Wided Boukhalfa, Sonia Abdelhak, Donata Luiselli, Rym Kefi

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Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report by Hamza Dallali, Nadia Kheriji, Wafa Kammoun, Mehdi Mrad, Manel Soltani, Hajer Trabelsi, Walid Hamdi, Afef Bahlous, Melika Ben Ahmed, Faten Mahjoub, Henda Jamoussi, Henda Jamoussi, Sonia Abdelhak, Sonia Abdelhak, Rym Kefi, Rym Kefi

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High-quality genome sequence assembly of R.A73 Enterococcus faecium isolated from freshwater fish mucus by Rim El Jeni, Kais Ghedira, Monia El Bour, Sonia Abdelhak, Alia Benkahla, Balkiss Bouhaouala-Zahar

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Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population. by Maroua Boujemaa, Najah Mighri, Lotfi Chouchane, Mohamed Samir Boubaker, Sonia Abdelhak, Hamouda Boussen, Yosr Hamdi

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Mitochondrial DNA structure of an isolated Tunisian Berber population and its relationship with Mediterranean populations by Nizar Ben Halim, Sana Hsouna, Khaled Lasram, Mariem Chargui, Laaroussi Khemira, Rachid Saidane, Sonia Abdelhak, Rym Kefi

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Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity by Lilia Romdhane, Sameh Kefi, Nessrine Mezzi, Najla Abassi, Haifa Jmel, Safa Romdhane, Jingxuan Shan, Lotfi Chouchane, Sonia Abdelhak

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A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa by Lilia Romdhane, Nessrine Mezzi, Hamza Dallali, Olfa Messaoud, Jingxuan Shan, Khalid A. Fakhro, Rym Kefi, Lotfi Chouchane, Sonia Abdelhak

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Inflammatory landscape in Xeroderma pigmentosum patients with cutaneous melanoma by Asma Chikhaoui, Meriem Jones, Tadeja Režen, Melika Ben Ahmed, Chokri Naouali, Radovan Komel, Mohamed Zghal, Samir Boubaker, Sonia Abdelhak, Houda Yacoub-Youssef

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First genetic characterization of Xeroderma pigmentosum in Libya: High frequency of XP‐C founder mutation by Najlaa Khalat, Olfa Messaoud, Mariem Ben Rekaya, Mariem Chargui, Mohamed Zghal, Bashir Zendah, Najat Saqer, Mourad Mokni, Sonia Abdelhak, Othman A. Mohamed

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Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort by Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak, Hamza Dallali, Rym Kefi, Sonia Abdelhak, Amina Gargouri-Berrechid, Chokri Mhiri, Riadh Gouider

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Dysregulated PDGFR alpha expression and novel somatic mutations in colorectal cancer: association to RAS wild type status and tumor size by Nadia Ben Jemii, Haifa Tounsi-Kettiti, Hamza Yaiche, Najla Mezghanni, Amira Jaballah Gabteni, Emna Fehri, Chayma Ben Fayala, Sonia Abdelhak, Samir Boubaker

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Association between epidemiological and clinico-pathological features of breast cancer with prognosis, family history, Ki-67 proliferation index and survival in Tunisian breast can... by Najah Mighri, Nesrine Mejri, Maroua Boujemaa, Yosra Berrazega, Haifa Rachdi, Houda El Benna, Soumaya Labidi, Farouk Benna, Samir Boubaker, Hamouda Boussen, Sonia Abdelhak, Yosr Hamdi

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Cancer in Africa: The Untold Story by Yosr Hamdi, Yosr Hamdi, Ines Abdeljaoued-Tej, Ines Abdeljaoued-Tej, Afzal Ali Zatchi, Afzal Ali Zatchi, Sonia Abdelhak, Samir Boubaker, Samir Boubaker, Joel S. Brown, Alia Benkahla

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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome by Abir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, Saloua Makni, Wajih Hammami, Chokri Naouali, Hamza Dallali, Lilia Romdhane, Anu Bashamboo, Kenneth McElreavey, Sonia Abdelhak, Olfa Messaoud

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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital... by Cherine Charfeddine, Nadia Laroussi, Rahma Mkaouar, Raja Jouini, Olfa Khayat, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel

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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism by Rahma Mkaouar, Rahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud

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Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved by Nessrine Mezzi, Olfa Messaoud, Rahma Mkaouar, Nadia Zitouna, Safa Romdhane, Ghaith Abdessalem, Cherine Charfeddine, Faouzi Maazoul, Ines Ouerteni, Yosr Hamdi, Anissa Zaouak, Ridha Mrad, Sonia Abdelhak, Lilia Romdhane

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Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases by Sami Bouchoucha, Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Hamza Dallali, Maleke Khammessi, Sonia Abdelhak, Nabil Nessibe, Mohammad Shboul, Susanne G. Kircher, Ali Al Kaissi, Ali Al Kaissi, Houda Yacoub-Youssef

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Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations. by Haifa Jmel, Lilia Romdhane, Yosra Ben Halima, Meriem Hechmi, Chokri Naouali, Hamza Dallali, Yosr Hamdi, Jingxuan Shan, Abdelmajid Abid, Henda Jamoussi, Sameh Trabelsi, Lotfi Chouchane, Donata Luiselli, Sonia Abdelhak, Rym Kefi

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