Mounira Hmani-Aifa

发表

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

F. Moreno, Mariem Ben Said, S. Masmoudi, 2012, International journal of pediatric otorhinolaryngology.

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

A. Tlili, S. Masmoudi, H. Ayadi, 2011, European journal of medical genetics.

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.

M. Tekin, M. Mustapha, S. Baig, 2010, Genetic testing and molecular biomarkers.

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

Richard S. Smith, P. Söderkvist, G. Howell, 2011, Nature Genetics.

Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families

P. Söderkvist, M. Hmani-Aifa, Annette Molbaek, 2019, Clinical & experimental ophthalmology.

A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children.

P. Söderkvist, O. Vaarala, X. Mai, 2004, The Journal of allergy and clinical immunology.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

W. Kimberling, S. Riazuddin, P. Söderkvist, 2009, European Journal of Human Genetics.

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1

M. Khairallah, P. Söderkvist, A. Rebaï, 2009, Human Genetics.

Molecular identification of Helicobacter DNA present in human colorectal adenocarcinomas by 16S rDNA PCR amplification and pyrosequencing analysis.

K. Fransén, P. Söderkvist, H. Monstein, 2005, Journal of medical microbiology.