Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Wieme Maamouri-Hicheri"'
Autor:
Ghada El Euch-Fayache, Moncef Feki, Rim Amouri, Houda Nehdi, Wieme Maamouri-Hicheri, Monia B. Hammer, Fayçal Hentati
Publikováno v:
Journal of Clinical Neuroscience. 21:311-315
Abetalipoproteinemia (ABL) is a rare monogenic disease characterized by very low plasma levels of cholesterol and triglyceride and almost complete absence of apolipoprotein B (apoB)-containing lipoproteins. Typically, patients present with failure to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ae734ffe529e5ae81b82c915cacfd7
https://doi.org/10.1016/j.jocn.2013.04.016
https://doi.org/10.1016/j.jocn.2013.04.016
Autor:
Fatma Nabli, Ghada El Euch-Fayache, Yosr Bouhlal, Monia B. Hammer, Amira Nasri, Houda Nehdi, Fayçal Hentati, Wieme Maamouri-Hicheri, Dalel Saidi, Rim Amouri
Publikováno v:
Diagnostic molecular pathology : the American journal of surgical pathology, part B. 21(4)
Ataxia with oculomotor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the SETX gene. It is a rare monogenic disease characterized by progressive cerebellar ataxia, oculomotor apraxia, axonal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d09d869480537be0a10810a2668c020
https://pubmed.ncbi.nlm.nih.gov/23111195
https://pubmed.ncbi.nlm.nih.gov/23111195
Akademický článek
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Autor:
Hammer, Monia Benhamed, El Euch-Fayache, Ghada, Nehdi, Houda, Saidi, Dalel, Nasri, Amira, Nabli, Fatma, Bouhlal, Yosr, Maamouri-Hicheri, Wieme, Hentati, Fayçal, Amouri, Rim
Publikováno v:
Diagnostic Molecular Pathology; Dec2012, Vol. 21 Issue 4, p241-245, 5p