Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis. [PDF]
Tafakhori A +6 more
europepmc +1 more source
Liquid crystal thermography in neuropathic assessment of the diabetic foot.
Primary aetiologic factors of diabetic foot disease include peripheral neuropathy and peripheral vascular disease. Assessment of circulation, neuropathy, and foot pressure is employed routinely to determine the risk of foot ulceration in the patient ...
Bharara, Manish
core
Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. [PDF]
Mu J, Jiang W, Tang Y, Zhou D, Liao W.
europepmc +1 more source
Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders. [PDF]
Lee KS +6 more
europepmc +1 more source
Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]
Shi X +5 more
europepmc +1 more source
Taylor Swift versus Mozart: music preferences of C57BL/6J mice. [PDF]
Kamionek D +3 more
europepmc +1 more source
Mitochondrial dynamics dysfunction and neurodevelopmental disorders: From pathological mechanisms to clinical translation. [PDF]
Yang Z +7 more
europepmc +1 more source
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach. [PDF]
Rozevska M +17 more
europepmc +1 more source
Effective treatment of NR2F1-related epilepsy with perampanel. [PDF]
Li X +5 more
europepmc +1 more source
Mitochondrial dysfunction in neurodegenerative disorders: mechanisms and therapeutic advances. [PDF]
Tong Y +11 more
europepmc +1 more source

