CONGENITAL ANOMALIES,volume 58,issue 1  (01-2018)

Period of time： 2018年1期

Publisher： John Wiley & Sons Inc

Founded in： 2000

Total resources： 16

E-ISSN： 1741-4520|58|1

ISSN： 0914-3505

Subject： Q3 Genetics

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CONGENITAL ANOMALIES,volume 58,issue 1

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CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 1-3

John Wiley & Sons Inc

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A prospective study on fetal posterior cranial fossa assessment for early detection of open spina bifida at 11–13 weeks

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 4-9

John Wiley & Sons Inc

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Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 10-15

John Wiley & Sons Inc

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Effects of environmental enrichment on the activity of the amygdala in micrencephalic rats exposed to a novel open field

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 16-23

John Wiley & Sons Inc

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Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 24-28

John Wiley & Sons Inc

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SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 29-32

John Wiley & Sons Inc

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Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 33-35

John Wiley & Sons Inc

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A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 36-38

John Wiley & Sons Inc

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Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 39-40

John Wiley & Sons Inc

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Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg

CONGENITAL ANOMALIES,volume 58,issue 1 , Vol. 58, Iss. 1, 2018-01 , pp. 41-43

John Wiley & Sons Inc

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Total 10 item(s)