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Your search keyword '"Briuglia, Silvana"' showing total 15 results

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15 results on '"Briuglia, Silvana"'

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1. Loss-of-function variants in ERFare associated with a Noonan syndrome-like phenotype with or without craniosynostosis

2. Heterozygous and homozygous variants in STX1Acause a neurodevelopmental disorder with or without epilepsy

4. FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family

5. Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): Association with clinical severity and phenotype.

6. DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

7. Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtiaHow to cite this article: Salpietro CD, Briuglia S, Cutrupi MC, Gallizzi R, Rigoli L, Dallapiccola B. 2009. Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. Am J Med Genet Part A 149A:2270–2273.

8. Angiotensin-Converting Enzyme and Angiotensin Type 2 Receptor Gene Genotype Distributions in Italian Children with Congenital Uropathies

9. Angiotensin-Converting Enzyme and Angiotensin Type 2 Receptor Gene Genotype Distributions in Italian Children with Congenital Uropathies

10. Disomy of distal Xq in males: Case report and overview

11. Ambiguous genitalia in a 48, XXYY newborn: a casual relationship or a coincidence?

15. Cutis laxa in Kabuki make-up syndrome.

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