Zobrazeno 1 - 10
of 516
pro vyhledávání: '"ROBERTS-SYNDROME"'
Autor:
Zhou, Jing1, Yang, Xiaonan1, Jin, Xiaolei1, Jia, Zhenhua1, Lu, Haibin1, Qi, Zuoliang1 public-qi@163.com
Publikováno v:
Experimental & Therapeutic Medicine. Feb2018, Vol. 15 Issue 2, p1702-1711. 10p.
Akademický článek
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Publikováno v:
BMC Genomics. 1/5/2016, Vol. 17, p1-18. 18p. 1 Diagram, 5 Graphs.
Autor:
Tosello, Barthélémy1,2 (AUTHOR) barthelemy.tosello@ap-hm.fr, Brévaut-Malaty, Véronique1 (AUTHOR), Chaumoître, Kathia3 (AUTHOR), Gire, Catherine1 (AUTHOR)
Publikováno v:
Fetal & Pediatric Pathology. Jun2015, Vol. 34 Issue 3, p197-201. 5p.
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
ESCO2 spectrum disorder is an autosomal recessive developmental disorder characterized by growth retardation, symmetrical mesomelic limb malformation, and distinctive facies with microcephaly, with a wide phenotypic continuum that ranges from Roberts
Externí odkaz:
https://doaj.org/article/9f4992cdb5b04eda84867d9f6030b7bd
Autor:
Dupont, Celine1 c.dupont@rdb.aphp.fr, Bucourt, Martine2 martine.bucourt@jvr.aphp.fr, Guimiot, Fabien3,4 fabien.guimiot@rdb.aphp.fr, Kraoua, Lilia5 kraoua_lilia@yahoo.fr, Smiljkovski, Daniel6,7 smiljkovski.daniel@hotmail.fr, Le Tessier, Dominique7 dominique.letessier@gmail.com, Lebugle, Camille8 camille.lebugle@inserm.fr, Gerard, Benedicte5 benedicte.gerard@chru-strasbourg.fr, Spaggiari, Emmanuel3 emmanuel.spaggiari@nck.aphp.fr, Bourdoncle, Pierre8 pierre.bourdoncle@inserm.fr, Tabet, Anne-Claude1 anne-claude.tabet@rdb.aphp.fr, Benzacken, Brigitte1,9 brigitte.benzacken@jvr.aphp.fr, Dupont, Jean-Michel6,7 jean-michel.dupont@cch.aphp.fr
Publikováno v:
Molecular Cytogenetics (17558166). 2014, Vol. 7 Issue 1, p1-17. 17p.
Publikováno v:
Indian Obstetrics & Gynaecology. 2013, Vol. 3 Issue 3, p18-21. 4p.
Autor:
Morita, Akihiro1, Nakahira, Kumiko1, Hasegawa, Taeko1, Uchida, Kaoru1, Taniguchi, Yoshihito2, Takeda, Shunichi2, Toyoda, Atsushi3, Sakaki, Yoshiyuki3, Shimada, Atsuko4, Takeda, Hiroyuki4, Yanagihara, Itaru1
Publikováno v:
Development, Growth & Differentiation. Jun2012, Vol. 54 Issue 5, p588-604. 17p. 2 Color Photographs, 3 Charts, 4 Graphs.
Autor:
Mönnich, Maren1, Kuriger, Zoë1, Print, Cristin G.2, Horsfield, Julia A.1 julia.horsfield@otago.ac.nz
Publikováno v:
PLoS ONE. 2011, Vol. 6 Issue 5, p1-12. 12p.
Publikováno v:
Indian Journal of Plastic Surgery. Jul-Dec2008, Vol. 41 Issue 2, p222-225. 4p. 3 Color Photographs.