Results 201 to 210 of about 6,098 (248)

Roles of Type 10 17β-Hydroxysteroid Dehydrogenase in Health and Disease. [PDF]

J Pers Med
He XY, Frackowiak J, Yang SY.
europepmc   +1 more source

Episodic Choreo-Dystonic Storm in an Infantile-Onset Movement Disorder: Think of G Protein Subunit Alpha O1 Gene Defect! [PDF]

Ann Indian Acad Neurol
Saxena M, Reddy TAV, Sowjanya K, Reddy VM, Kumar N.   +4 more
europepmc   +1 more source

Triad of Ophthalmoplegia, Facial Palsy, and Cerebellar Ataxia with "Hot Cross Bun" Associated with Autoimmune Thyroiditis. [PDF]

Ann Indian Acad Neurol
Mustafa F, Thrupthi KM, Agarwal A, Garg A, Shamim SA, Srivastava AK, Garg D.   +6 more
europepmc   +1 more source

Noninvasive fetal genotyping using deep neural networks. [PDF]

Brief Bioinform
Schwammenthal Y, Rabinowitz T, Basel-Salmon L, Tomashov-Matar R, Shomron N.   +4 more
europepmc   +1 more source

Primary congenital hypothyroidism: a clinical review. [PDF]

Front Endocrinol (Lausanne)
Cavarzere P, Mancioppi V, Battiston R, Lupieri V, Morandi A, Maffeis C.   +5 more
europepmc   +1 more source

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Familial inverted choreoathetosis

Neurology, 1979
We present a family with infantile onset of progressive choreoathetosis. The movements affected the legs predominantly and also impaired gait. No dementia, seizures, or rigidity was noted. Inheritance was autosomal dominant. This new familial movement disorder can be differentiated easily from other hereditary choreas.
Fisher, Marc, Sargent, Jane, Drachman, David A.   +2 more
openaire   +3 more sources