Alexandra M. Dumitrescu to Mutation, Missense
This is a "connection" page, showing publications Alexandra M. Dumitrescu has written about Mutation, Missense.
Connection Strength
0.974
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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005 Nov; 37(11):1247-52.
Score: 0.241
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Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism. Thyroid. 2021 02; 31(2):202-207.
Score: 0.170
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Central Congenital Hypothyroidism Caused by a Novel Mutation, C47W, in the Cysteine Knot Region of TSHß. Horm Res Paediatr. 2019; 92(6):390-394.
Score: 0.161
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Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line. Thyroid. 2019 06; 29(6):778-782.
Score: 0.154
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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. BMC Med Genet. 2018 05 02; 19(1):69.
Score: 0.144
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A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 2008 Jan; 121(1):e199-202.
Score: 0.070
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Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications. J Clin Endocrinol Metab. 2017 10 01; 102(10):3775-3782.
Score: 0.034