Sana Kmiha

Distinct Antibody Signatures to Human Endogenous Retroviruses and Mycobacterium Paratuberculosis in Newly Diagnosed Tunisian Type 1 Diabetes Patients

Hana Houssaini, Marta Noli, R. Fakhfakh, Olfa Abida et autres

it, Tunisie (code pays fourni par la source)

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort

R. Khalfallah, Fakhri Kallabi, Delphine Mallet, Manel Guirat et autres

Tunisie, fr, us (code pays fourni par la source)

Epidemiology of type 1 diabetes in children: a 5-year study

Slima Mariem Ben, Sana Kmiha, Yassmine Mkhinini, Rim Belhadj et autres

From ovary to testis: a case of 46,XX ovotesticular DSD

Yassmine Mkhinini, Sana Kmiha, Saloua Ammar, Rhouma Bochra Ben et autres

Mixed gonadal dysgenesis: a case report and management approach

Sana Kmiha, Yassmine Mkhinini, Rhouma Bochra Ben, Marwa Bahloul et autres

Prader-willi syndrome: a 17-year retrospective study on clinical features and genetic findings

Sana Kmiha, Yassmine Mkhinini, Mariem Ammar, Rim Belhadj et autres

Molecular analysis of AMH and AMHR2 genes in four cases of persistent mullerian duct syndrome (PMDS)

Sana Kmiha, Rhouma Bochra Ben, Yassmine Mkhinini, Rim Belhadj et autres

Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level

Boudour Khabou, Houcemeddine Othman, Manel Guirat, I. Chabchoub et autres

Tunisie, Afrique du Sud, us, qa, ae (code pays fourni par la source)

EBV-associated leiomyosarcoma in an immunocompromised child: A unique intracranial case with genomic study

Wiem Ben Makhlouf, Rim Kallel, Roeya Kolsi, Sana Kmiha et autres

INTRODUCTION AND IMPORTANCE: Epstein-Barr virus (EBV) is a common virus infecting more than 90 % of the adult population, typically without symptoms. While most infections remain asymptomatic, EBV is associated with over 200,000 new cancer cases annually. It is linked to several …

Tunisie (code pays fourni par la source)

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number

Marwa Ammar, Sana Kmiha, Marwa Maalej, Rahma Felhi et autres

Congenital sideroblastic anemia (CSA) is a rare genetic disorder caused by defects on heme biosynthesis and mitochondrial energy production. This disease is characterized by the presence of ring sideroblasts in the bone marrow caused by excessive iron accumulation in mitochondria of erythroblasts …

Tunisie, ae (code pays fourni par la source)

Turner Syndrome: results of the first Tunisian study group on Turner Syndrome (TuSGOT)

L. Essaddam, Ons Zitouni, Lilia Kraoua, Madiha Trabelsi et autres

OBJECTIVES: Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls. …

Tunisie (code pays fourni par la source)

Autoantibodies to Zinc Transporter 8 and SLC30A8 Genotype in Type 1 Diabetes Childhood: A Pioneering Study in North Africa

R. Fakhfakh, Sana Kmiha, Safa Tahri, S. Feki et autres

Background. Type 1 diabetes (T1D) occurs as a result of insulin deficiency due to destructive lesions of pancreatic β cells. In addition to classical autoantibodies (Abs) to islet cell antigens, antizinc transporter 8 Abs (ZnT8-Ab) have been recently described in T1D. Objective. …

Tunisie (code pays fourni par la source)