Yosra Bouyacoub

Consanguinity, endogamy, and genetic disorders in Tunisia

Nizar Ben Halim, Nissaf Ben Alaya, Lilia Romdhane et al. · Journal of Community Genetics · 2012 · 107 citations · Full text

Mendelian Disorder, Genetic Disorder, Global Health +3

Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

Imen Dorboz, Hélène Dumay‐Odelot, K. Boussaid et al. · Neurology Genetics · 2018 · 86 citations · Full text

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

Moez Gribaa, M. Younès, Yosra Bouyacoub et al. · Journal of Bone and Mineral Metabolism · 2009 · 57 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Sophie Boucher, Fabienne Wong Jun Tai, Sedigheh Delmaghani et al. · Proceedings of the National Academy of Sciences · 2020 · 54 citations · Full text

Mutations in CDC14A , Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Sedigheh Delmaghani, Asadollah Aghaie, Yosra Bouyacoub et al. · The American Journal of Human Genetics · 2016 · 46 citations · Full text

Signal Transduction, Developmental Biology, Mendelian Disorder +9