Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

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P1476

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates

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P2093

Eric A Evans

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Imran S Haque

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James D Goldberg

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P2860

Carrier screening in individuals of Ashkenazi Jewish descent

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

The Smith-Lemli-Opitz syndrome.

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

Inborn errors of sterol biosynthesis.

Identification of a large set of rare complete human knockouts.

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.

P304

350-355

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P31

scholarly article

P356

10.1002/PD.5018

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Gabriel A Lazarin

P577

2017-03-09T00:00:00Z

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P698

28166604

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P932

5413855

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