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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 ...
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 ...