Found: 5
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Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 425, doi. 10.1159/000522532
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- Article
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 194, doi. 10.1159/000514122
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- Article
17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature.
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- Molecular Syndromology, 2018, v. 9, n. 6, p. 300, doi. 10.1159/000494681
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- Article
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.
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- Sexual Development, 2022, v. 16, n. 1, p. 64, doi. 10.1159/000519062
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- Article
Absence of GPR54 and TACR3 Mutations in Sporadic Cases of Idiopathic Central Precocious Puberty.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 177, doi. 10.1159/000356913
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- Article