Sentence examples for mutations presented with from inspiring English sources

Interestingly, three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia.

The two patients with KCNJ11 mutations presented with diabetes between 1 and 3 months of age.

A French patient with ABCA3 mutations presented with combined pulmonary fibrosis and emphysema (CPFE) [ 46].

Additionally, 24%% of Coffin-Siris patients without identified mutations presented with short stature.

Four patients with SF1 mutations presented with the similar phenotype of mild gonadal dysgenesis, severe underandrogenization, and absent Müllerian structures.

> -wrap-foot> > -wrap-foot> All patients with pathogenic mutations presented with symptoms suggestive of peripheral neuropathy within the first year of life.

Thus, higher activation levels of AMPK may be a general feature of mouse models carrying Scn4a mutations presenting with intermittent immobility attacks.

All patients (including the nine cases with 10+16 intronic mutations) presenting with behavioural variant FTD syndrome had prominent disinhibition and developed semantic impairment with profound anomia and episodic memory impairment as the disease progressed.

It is still an open debate whether patients with GRIN2B mutations present with an unspecific ID phenotype with some anomalies in behavior, or with a very specific behavioral phenotype that could lead to the suspicion of a GRIN2B mutation on clinical evidence alone.

Patients carrying one 199T>C mutation presented with residual activities above 10%.

Thus, it is not surprising that the patient carrying the F1473C mutation presented with extreme QT prolongation (approximately 800 ms).