Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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Journal Article
ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis
Chourabi, Marwa, Liew, Mei Shan, Lim, Shawn, H’mida-Ben Brahim, Dorra, Boussofara, Lobna, Dai, Liang, Wong, Pui Mun, Foo, Jia Nee, Sriha, Badreddine, Robinson, Kim Samirah, Denil, Simon, Common, John EA, Mamaï, Ons, Ben Khalifa, Youcef, Bollen, Mathieu, Liu, Jianjun, Denguezli, Mohamed, Bonnard, Carine, Saad, Ali, Reversade, Bruno
Published in Journal of investigative dermatology (01.02.2018)
Published in Journal of investigative dermatology (01.02.2018)
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Journal Article
Amelanotic melanoma arising in an area of SLURP‐1 mutated Mal de Meleda
Arousse, Aycha, Mokni, Sana, H'mida Ben Brahim, Dorra, Bdioui, Ahlem, Aounallah, Amina, Gammoudi, Rima, Saidi, Wafa, Boussofara, Lobna, Ghariani, Najet, Denguezli, Mohamed, Belajouza, Colandane, Nouira, Rafia
Published in International journal of dermatology (01.08.2019)
Published in International journal of dermatology (01.08.2019)
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Journal Article
Characterization of a Novel Mutation in PAX9 Gene in a Family with Non-Syndromic Dental Agenesis
Haddaji Mastouri, Marwa, DeCoster, Peter, Zaghabani, Aicha, Trabelsi, Saoussen, May, Yosra, Saad, Ali, Coucke, Paul, H’mida Ben Brahim, Dorra
Published in Archives of oral biology (01.11.2016)
Published in Archives of oral biology (01.11.2016)
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Journal Article
Molecular Diagnostic and Prognostic Subtyping of Gliomas in Tunisian Population
Trabelsi, Saoussen, Chabchoub, Imen, Ksira, Iadh, Karmeni, Nadhir, Mama, Nadia, Kanoun, Samia, Burford, Anna, Jury, Alexa, Mackay, Alan, Popov, Sergey, Bouaouina, Noureddine, Ben Ahmed, Slim, Mokni, Moncef, Tlili, Kalthoum, Krifa, Hedi, Yacoubi, Mohamed Tahar, Jones, Chris, Saad, Ali, H’mida Ben Brahim, Dorra
Published in Molecular neurobiology (01.05.2017)
Published in Molecular neurobiology (01.05.2017)
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Journal Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III
Mili, Amira, Ben Charfeddine, Ilhem, Mamaï, Ons, Abdelhak, Sonia, Adala, Labiba, Amara, Abdelbasset, Pagliarani, Serena, Lucchiarri, Sabrina, Lucchiari, Sabrina, Ayadi, Abdelkarim, Tebib, Neji, Harbi, Abdelaziz, Bouguila, Jihene, H'Mida, Dorra, Saad, Ali, Limem, Khalifa, Comi, G P, Gribaa, Moez
Published in Journal of human genetics (01.03.2012)
Published in Journal of human genetics (01.03.2012)
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Journal Article
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma
Mackay, Alan, Burford, Anna, Carvalho, Diana, Izquierdo, Elisa, Fazal-Salom, Janat, Taylor, Kathryn R., Bjerke, Lynn, Clarke, Matthew, Vinci, Mara, Nandhabalan, Meera, Temelso, Sara, Popov, Sergey, Molinari, Valeria, Raman, Pichai, Waanders, Angela J., Han, Harry J., Gupta, Saumya, Marshall, Lynley, Zacharoulis, Stergios, Vaidya, Sucheta, Mandeville, Henry C., Bridges, Leslie R., Martin, Andrew J., Al-Sarraj, Safa, Chandler, Christopher, Ng, Ho-Keung, Li, Xingang, Mu, Kun, Trabelsi, Saoussen, Brahim, Dorra H’mida-Ben, Kisljakov, Alexei N., Konovalov, Dmitry M., Moore, Andrew S., Carcaboso, Angel Montero, Sunol, Mariona, de Torres, Carmen, Cruz, Ofelia, Mora, Jaume, Shats, Ludmila I., Stavale, João N., Bidinotto, Lucas T., Reis, Rui M., Entz-Werle, Natacha, Farrell, Michael, Cryan, Jane, Crimmins, Darach, Caird, John, Pears, Jane, Monje, Michelle, Debily, Marie-Anne, Castel, David, Grill, Jacques, Hawkins, Cynthia, Nikbakht, Hamid, Jabado, Nada, Baker, Suzanne J., Pfister, Stefan M., Jones, David T.W., Fouladi, Maryam, von Bueren, André O., Baudis, Michael, Resnick, Adam, Jones, Chris
Published in Cancer cell (09.10.2017)
Published in Cancer cell (09.10.2017)
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Journal Article
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells
Vinci, Mara, Burford, Anna, Molinari, Valeria, Kessler, Ketty, Popov, Sergey, Clarke, Matthew, Taylor, Kathryn R., Pemberton, Helen N., Lord, Christopher J., Gutteridge, Alice, Forshew, Tim, Carvalho, Diana, Marshall, Lynley V., Qin, Elizabeth Y., Ingram, Wendy J., Moore, Andrew S., Ng, Ho-Keung, Trabelsi, Saoussen, H’mida-Ben Brahim, Dorra, Entz-Werle, Natacha, Zacharoulis, Stergios, Vaidya, Sucheta, Mandeville, Henry C., Bridges, Leslie R., Martin, Andrew J., Al-Sarraj, Safa, Chandler, Christopher, Sunol, Mariona, Mora, Jaume, de Torres, Carmen, Cruz, Ofelia, Carcaboso, Angel M., Monje, Michelle, Mackay, Alan, Jones, Chris
Published in Nature medicine (01.08.2018)
Published in Nature medicine (01.08.2018)
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Journal Article
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature
Touati, Ameni, Errea-Dorronsoro, Javier, Nouri, Sonia, Halleb, Yosra, Pereda, Arrate, Mahdhaoui, Nabiha, Ghith, Aida, Saad, Ali, Perez de Nanclares, Guiomar, H’mida ben brahim, Dorra
Published in Acta diabetologica (01.03.2019)
Published in Acta diabetologica (01.03.2019)
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Journal Article
Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series
Haddaji Mastouri, Marwa, De Coster, Peter, Zaghabani, Aicha, Jammali, Frej, Raouahi, Nabiha, Ben Salem, Amina, Saad, Ali, Coucke, Paul, H'mida Ben Brahim, Dorra
Published in European journal of oral sciences (01.02.2018)
Published in European journal of oral sciences (01.02.2018)
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Journal Article
Erratum: Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III
Mili, Amira, Charfeddine, Ilhem Ben, Mama, Ons, Abdelhak, Sonia, Adala, Labiba, Amara, Abdelbasset, Pagliarani, Serena, Lucchiarri, Sabrina, Ayadi, Abdelkarim, Tebib, Neji, Harbi, Abdelaziz, Bouguila, Jihene, H'Mida, Dorra, Saad, Ali, Limem, Khalifa, Comi, G P, Gribaa, Moez
Published in Journal of human genetics (26.03.2012)
Published in Journal of human genetics (26.03.2012)
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Journal Article
Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene
Chouk, Hamza, Ben Rejeb, Mohamed, Boussofara, Lobna, Elmabrouk, Haїfa, Ghariani, Najet, Sriha, Badreddine, Saad, Ali, H'Mida, Dorra, Denguezli, Mohamed
Published in Human genomics (17.10.2021)
Published in Human genomics (17.10.2021)
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Journal Article
The Role of Pericytes in Inner Ear Disorders: A Comprehensive Review
Maniaci, Antonino, Briglia, Marilena, Allia, Fabio, Montalbano, Giuseppe, Romano, Giovanni Luca, Zaouali, Mohamed Amine, H'mida, Dorra, Gagliano, Caterina, Malaguarnera, Roberta, Lentini, Mario, Graziano, Adriana Carol Eleonora, Giurdanella, Giovanni
Published in Biology (Basel, Switzerland) (08.10.2024)
Published in Biology (Basel, Switzerland) (08.10.2024)
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Journal Article
X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
Chouk, Hamza, Saad, Sarra, Dimassi, Sarra, Fetoui, Nadia Ghariani, Bennour, Ayda, Gammoudi, Rima, Elmabrouk, Haifa, Saad, Ali, Denguezli, Mohamed, H'mida, Dorra
Published in BMC medical genomics (26.07.2022)
Published in BMC medical genomics (26.07.2022)
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Journal Article
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer
Marwa Mahdouani, Slim Ben Ahmed, Fahmi Hmila, Henda Rais, Rihab Ben Sghaier, Hanene Saad, Mariem Ben Said, Saber Masmoudi, Dorra Hmida, Angela Brieger, Stefan Zeuzem, Ali Saad, Moez Gribaa, Guido Plotz
Published in PloS one (01.12.2022)
Published in PloS one (01.12.2022)
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Journal Article
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer
Mahdouani, Marwa, Ben Ahmed, Slim, Hmila, Fahmi, Rais, Henda, Ben Sghaier, Rihab, Saad, Hanene, Ben Said, Mariem, Masmoudi, Saber, Hmida, Dorra, Brieger, Angela, Zeuzem, Stefan, Saad, Ali, Gribaa, Moez, Plotz, Guido
Published in PloS one (01.12.2022)
Published in PloS one (01.12.2022)
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Journal Article
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
Trabelsi, Narjes, Othman, Houcemeddine, Bedhioufi, Hafsi, Chouk, Hamza, El Mabrouk, Haïfa, Mahdouani, Marwa, Gribaa, Moez, Saad, Ali, H’mida, Dorra
Published in Journal of community genetics (31.07.2024)
Published in Journal of community genetics (31.07.2024)
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Journal Article
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia
Assoum, Mirna, Salih, Mustafa A., Drouot, Nathalie, H'Mida-Ben Brahim, Dorra, Lagier-Tourenne, Clotilde, AlDrees, Abdulmajeed, Elmalik, Salah A., Ahmed, Taha S., Seidahmed, Mohammad Z., Kabiraj, Mohammad M., Koenig, Michel
Published in Brain (London, England : 1878) (01.08.2010)
Published in Brain (London, England : 1878) (01.08.2010)
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Journal Article
Meningeal Hemangiopericytomas and Meningomas: a Comparative Immunohistochemical and Genetic Study
Trabelsi, Saoussen, Mama, Nadia, Chourabi, Maroua, Mastouri, Maroua Haddaji, Ladib, Mohamed, Popov, Sergey, Burford, Anna, Mokni, Moncef, Tlili, Kalthoum, Krifa, Hedi, Jones, Chris, Yacoubi, Mohamed Tahar, Saad, Ali, Brahim, Dorra H'mida-Ben
Published in Asian Pacific journal of cancer prevention : APJCP (04.11.2015)
Published in Asian Pacific journal of cancer prevention : APJCP (04.11.2015)
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Journal Article
Glioma epidemiology in the central Tunisian population: 1993-2012
Trabelsi, Saoussen, Brahim, Dorra H'mida-Ben, Ladib, Mohamed, Mama, Nadia, Harrabi, Imed, Tlili, Kalthoum, Yacoubi, Mohamed Tahar, Krifa, Hedi, Hmissa, Sihem, Saad, Ali, Mokni, Moncef
Published in Asian Pacific journal of cancer prevention : APJCP (01.01.2014)
Published in Asian Pacific journal of cancer prevention : APJCP (01.01.2014)
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