Search Results - "Mrabet, Samir"

Left-sided congenital heart lesions in mosaic Turner syndrome by Bouayed Abdelmoula, Nouha, Abdelmoula, Balkiss, Smaoui, Walid, Trabelsi, Imen, Louati, Rim, Aloulou, Samir, Aloulou, Wafa, Abid, Fatma, Kammoun, Senda, Trigui, Khaled, Bedoui, Olfa, Denguir, Hichem, Mallek, Souad, Ben Aziza, Mustapha, Dammak, Jamila, Kaabi, Oldez, Abdellaoui, Nawel, Turki, Fatma, Kaabi, Asma, Kamoun, Wafa, Jabeur, Jihen, Ltaif, Wided, Chaker, Kays, Fourati, Haytham, M’rabet, Samir, Ben Ameur, Hedi, Gouia, Naourez, Mhiri, Mohamed Nabil, Rebai, Tarek

“…In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of…”
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Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes by Elhayek, Donia, Perez de Nanclares, Gustavo, Chouchane, Slaheddine, Hamami, Saber, Mlika, Adnène, Troudi, Monia, Leban, Nadia, Ben Romdane, Wafa, Gueddiche, Mohamed Neji, El Amri, Féthi, Mrabet, Samir, Ben Chibani, Jemni, Castaño, Luis, Haj Khelil, Amel, Ariceta, Gema

“…Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a…”
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Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genes by Elhayek, Donia, Perez de Nanclares, Gustavo, Chouchane, Slaheddine, Hamami, Saber, Mlika, Adnène, Troudi, Monia, Leban, Nadia, Ben Romdane, Wafa, Gueddiche, Mohamed Neji, El Amri, Féthi, Mrabet, Samir, Ben Chibani, Jemni, Castaño, Luis, Haj Khelil, Amel, Ariceta, Gema

“…Abstract Background Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + −ATPase pump subunits is a…”
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Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia by Jelassi, Awatef, Slimani, Afef, Rabès, Jean Pierre, Jguirim, Imen, Abifadel, Marianne, Boileau, Catherine, Najah, Mohamed, M'rabet, Samir, Mzid, Jawher, Slimane, Mohamed Naceur, Varret, Mathilde

“…Autosomal Dominant Hypercholesterolemia (ADH) is due to defects in the LDL receptor gene (LDLR), the apolipoprotein B-100 gene (APOB) or the proprotein…”
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Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms by Ben Charfeddine, Ilhem, Riepe, Felix G., Clauser, Eric, Ayedi, Abdelkarim, Makni, Saloua, Sfar, Mohamed Tahar, Sboui, Hassen, Kahloul, Najoua, Ben Hamouda, Hechmi, Chouchane, Slaheddine, Trimech, Sihem, Zouari, Noura, M'Rabet, Samir, Amri, Fathi, Saad, Ali, Holterhus, Paul-Martin, Gribaa, Moez

“…Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by…”
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