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Progressive encephalomyelitis with rigidity and myoclonus: A syndrome with diverse clinical features and antibody responses
(Karger AG, Basel, 2012)
Background/Aims: To better characterize progressive encephalomyelitis with rigidity and myoclonus (PERM) syndrome and identify novel PERM phenotypes. Methods: The clinical features and antibody status of PERM patients were ...
Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation
(Springer Verlag, 2012)
Background
Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in childhood. It usually occurs after a prodromal episode of diarrhea and it leads to significant morbidity and mortality during ...
Comparison of chromosomal abnormality rates in ICSI for non-male factor and spontaneous conception
(Springer Verlag, 2012)
OBJECTIVE: To compare cytogenetic data of first-trimester missed abortions in intracytoplasmic sperm injection (ICSI) for non-male factor-mediated and spontaneous pregnancies.
METHODS: Using karyotype analysis, we conducted ...
First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: Case study of a novel c.4505-4508insACTC mutation
(Springer Verlag, 2012)
First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: Case study of a novel c.4505-4508insACTC mutation
Introduction Epidermolysis bullosa (EB) is an inherited blistering ...
Atrial functions assessed by colour doppler myocardial imaging in hypertrophic cardiomyopathy
(Türkiye Klinikleri, 2012)
Objective: Deterioration in atrial functions can lead to acute hemodynamic decompensation in patients with hypertrophic cardiomyopathy (HCM). The question of whether the atrial dysfunction may be explained primarily by the ...