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Deep Crypt Secretory Cell Differentiation in the Colonic Epithelium Is Regulated by Sprouty2 and Interleukin 13.
Factors limiting rosette recruitment in scarlet gilia, Ipomopsis aggregata: seed and disturbance limitation.
Karyotype and nuclear DNA content of hexa-, octo-, and duodecaploid lines of Bromus subgen. Ceratochloa.
Visit to intensive care of 2050.
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Dumitrescu, Alexandra M.
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Dumitrescu, Alexandra M.
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Concept
Muscle Hypotonia
Academic Article
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
Academic Article
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
Academic Article
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
Academic Article
The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Academic Article
Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Academic Article
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Academic Article
Early Diagnosis and Treatment of an Infant with a Novel Thyroid Hormone Receptor a Gene (pC380SfsX9) Mutation.
Academic Article
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Academic Article
Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
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Muscle Hypotonia