A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.

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A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.

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http://www.wikidata.org/entity/Q40148118

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.

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A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.

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A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.

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P1476

A genetic epidemiology study of Congenital Adrenal Hyperplasia in Italy.

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P2093

Antonella Meloni

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Carlo Carcassi

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Giovanni Romeo

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Letizia Casula

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Lilia Baldazzi

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Luisa Balestrino

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Maria Carla Farci

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Rita Ortolano

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Sandro Loche

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Soara Menabò

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P2860

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Impact of molecular genetics on congenital adrenal hyperplasia management.

Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation.

Biochemical and genetic diagnosis of 21-hydroxylase deficiency.

Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity.

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).

P31

scholarly article

P356

10.1111/CGE.13078

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P50

Antonio Balsamo

Alessandro Gialluisi

P577

2017-06-23T00:00:00Z

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P698

28644547

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P921

An Eadailt

birth defect