Zobrazeno 1 - 6
of 6
pro vyhledávání: '"exome-target sequencing"'
Autor:
Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Wanyu Fu, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You Yang, Yuanbai Wang, Jing Wu
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (SHH) regulato
Externí odkaz:
https://doaj.org/article/d5ceff66bffa42a4a16c4bae1306ef07
Autor:
Joanna Goes Castro Meira, Manoel Alfredo Curvelo Sarno, Ágatha Cristhina Oliveira Faria, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Gabriela Gayer Scheibler, Dione Fernandes Tavares, Angelina Xavier Acosta
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 40, Iss 9, Pp 570-575 (2018)
Abstract Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with s
Externí odkaz:
https://doaj.org/article/fb7cd6eb064d4cb3b9930ada56225ccb
Autor:
Gabriela Gayer Scheibler, Guilherme L. Yamamoto, Débora Romeo Bertola, Ágatha Cristhina Oliveira Faria, Joanna Goes Castro Meira, Angelina Xavier Acosta, Manoel Sarno, Dione Fernandes Tavares
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 40, Iss 9, Pp 570-575 (2018)
Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6be5025e0ede3aa637a319f1e9b52ecd
https://doi.org/10.1055/s-0038-1670684
https://doi.org/10.1055/s-0038-1670684
Autor:
Meira,Joanna Goes Castro, Sarno,Manoel Alfredo Curvelo, Faria,Ágatha Cristhina Oliveira, Yamamoto,Guilherme Lopes, Bertola,Débora Romeo, Scheibler,Gabriela Gayer, Tavares,Dione Fernandes, Acosta,Angelina Xavier
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia v.40 n.9 2018
Revista brasileira de ginecologia e obstetrícia
Federação Brasileira das Sociedades de Ginecologia e Obstetrícia (FEBRASGO)
instacron:FEBRASGO
Revista brasileira de ginecologia e obstetrícia
Federação Brasileira das Sociedades de Ginecologia e Obstetrícia (FEBRASGO)
instacron:FEBRASGO
Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::2b6f567769f6c078b6d0fb750cd8cb1a
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032018000900570
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Akademický článek
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