Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Olfa Siala-Sahnoun"'
Autor:
Olfa Siala-Sahnoun, Fatma Laadhar, Mouna Mnif, Wajdi Sefi, Faten Hadj Kacem, Mohamed A Kessentini, Mohamed Abid, Faiza Fakhfakh
Publikováno v:
Journal of the Arab Society for Medical Research, Vol 18, Iss 1, Pp 68-75 (2023)
Background/aim Turner syndrome (TS) is a rare sex chromosome abnormality in women, occurring in approximately one in 2500 live births, associated with a wide range of clinical stigmata of which short stature, ovarian dysgenesis, and dysmorphic featur
Externí odkaz:
https://doaj.org/article/195f05cc8a9446f098cef22e39a629c4
Autor:
Emna Mkaouar-Rebai, Mongia Hachicha, Leila Keskes, Faiza Fakhfakh, Olfa Siala-Sahnoun, Lamia Gargouri, Boudour Khabou
Publikováno v:
Computational Biology and Chemistry. 65:103-109
Display Omitted We reported the first molecular diagnostic of PFIC3 in Tunisia.The first bioinformatic exploration of synonymous SNPs in ABCB4 gene.Potential implication of the c.175C>T variant in an aberrant splicing.The c.504C>T variation seems to
Autor:
Boudour Khabou, Emna Mkaouar-Rebai, Faiza Fakhfakh, Ahmed Rebai, Mouna Tabebi, Olfa Siala-Sahnoun
Publikováno v:
Annals of human genetics. 82(6)
The multiple drug resistance 3 (MDR3) protein is a canalicular phospholipid translocator involved in the bile secretion and encoded by the ABCB4 gene. Its deficiency is related to a large spectrum of liver diseases. Taking into account the increased
Publikováno v:
Molecular biology reports. 43(3)
Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million life births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor (IR) gene "INSR". DS is charac