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N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study.
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Refetoff, Samuel
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Refetoff, Samuel
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Academic Article
Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor.
Academic Article
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
Academic Article
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
Academic Article
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
Academic Article
Generation of functional thyroid from embryonic stem cells.
Academic Article
Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.
Academic Article
Increased Anaplastic Lymphoma Kinase Activity Induces a Poorly Differentiated Thyroid Carcinoma in Mice.
Concept
Homeobox Protein Nkx-2.5
Concept
Thyroid Nuclear Factor 1
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Thyroid Nuclear Factor 1