Výsledky vyhledávání - "Florrie N. Y. Yu"

Akademický článek

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Autor: Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

Abstract Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation

Externí odkaz: https://doaj.org/article/8b47cc4e100149eabcf38a90b8391572

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Prospective risk of stillbirth and neonatal complications for monochorionic diamniotic and dichorionic diamniotic twins after 24 weeks of gestation

Autor: Teresa Wei Ling Ma, Kwok Yin Leung, Ngai Man Chan, Annisa Shui Lam Mak, Florrie N. Y. Yu, Kiu Lok Siu

Publikováno v: Journal of Obstetrics and Gynaecology Research. 47:3127-3135

INTRODUCTION Our study compared the prospective risks of intrauterine fetal death (IUFD), neonatal death (NND), perinatal death (PND), and neonatal morbidities in monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA) twin pregnancies. MET

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a2ce4f6ca7e6090b01b4617ac74a31a
https://doi.org/10.1111/jog.14866

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Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases

Autor: Kelvin Y.K. Chan, Elizabeth Y. Y. Li, Anita Sik Yau Kan, Brian H.Y. Chung, Elim Man, Meliza C. W. Kong, Teresa W. L. Ma, Florrie N. Y. Yu

Publikováno v: Prenatal Diagnosis. 41:697-700

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87dfb2285beb84222429173f9da42aa4
https://doi.org/10.1002/pd.5911

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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Autor: Florrie N. Y. Yu, Cheuk Wing Fung, Mandy H.Y. Tsang, Hencher H. C. Lee, Sheila Wong, Brian H.Y. Chung, Kelvin Y.K. Chan, Kwok Yin Leung, Jasmine L.F. Fung, Sophelia H. S. Chan, Kit San Yeung, Sharon T. H. Fung, Wai Hang Chung, Yun Ting Lee, Mullin H.C. Yu, Anita Sik Yau Kan, Genevieve P.G. Fung, Vivian Kwun Sin Ng

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)

Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ed505cc561b29d3c65363610e1b42b
https://doi.org/10.1002/mgg3.1229

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