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  1. Article

    Open Access

    High-quality genome sequence assembly of R.A73 Enterococcus faecium isolated from freshwater fish mucus

    Whole-genome sequencing using high throughput technologies has revolutionized and speeded up the scientific investigation of bacterial genetics, biochemistry, and molecular biology. Lactic acid bacteria (LABs)...

    Rim El Jeni, Kais Ghedira, Monia El Bour, Sonia Abdelhak, Alia Benkahla… in BMC Microbiology (2020)

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  2. No Access

    Article

    Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family

    Studies of X-linked pedigrees were the first to identify genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD). However, some pedigrees present a huge clinical variability between...

    Saida Lahbib, Mediha Trabelsi, Hamza Dallali, Rania Sakka… in Molecular Biology Reports (2019)

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    Article

    Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

    Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental ...

    Saida Lahbib, Claire S. Leblond, Mariem Hamza… in Journal of Applied Genetics (2019)

  4. No Access

    Article

    A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family

    MAJDI NAGARA, KONSTANTINOS VOSKARIDES, SAHAR ELOUEJ… in Journal of Genetics (2014)

  5. No Access

    Article

    Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

    Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease is c...

    Faten Ben Rhouma, Hatem Azzouz, François M. Petit… in Molecular Biology Reports (2013)

  6. No Access

    Article

    Screening of three Mediterranean phenylketonuria mutations in Tunisian families

    SAMEH KHEMIR, HAJER SIALA, SAMEH HADJ TAIEB, WAFA CHERIF… in Journal of Genetics (2012)

  7. No Access

    Article

    A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype–genotype correlation

    MARIEM BEN REKAYA, OLFA MESSAOUD, AMEL MEBAZAA, OLFA RIAHI… in Journal of Genetics (2011)

  8. No Access

    Article

    Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene

    Hereditary multiple exostoses (HME) is an autosomal dominant orthopaedic disorder most frequently caused by mutations in the EXT1 gene. The aim of the present study is to determine the underlying molecular defect...

    Sana Sfar, Abderrazak Abid, Wijden Mahfoudh, Houyem Ouragini… in Molecular Biology Reports (2009)