Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Franceschetti syndrome"'
Publikováno v:
MAMC Journal of Medical Sciences, Vol 4, Iss 2, Pp 96-99 (2018)
Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a resul
Externí odkaz:
https://doaj.org/article/03deeca7000c4917938513f19021a3b7
Publikováno v:
Саратовский научно-медицинский журнал, Vol 11, Iss 4, Pp 551-553 (2015)
The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis) resulting from defeat of the structures proceeding from the first branchial arch. The pathological state is
Externí odkaz:
https://doaj.org/article/1d19d0d9d1844482b2e64fdfc1589ce2
Publikováno v:
The International Journal of Developmental Biology. 65:215-225
Although the vertebrate head has evolved to a wide collection of adaptive shapes, the fundamental signalling pathways and cellular events that outline the head skeleton have proven to be highly conserved. This conservation suggests that major morphol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcad754b165a2304b8e79394bdae44b
https://doi.org/10.1387/ijdb.200229nc
https://doi.org/10.1387/ijdb.200229nc
Autor:
Me��mer, Annika
Tcof1 und Bop1 sind Ribosomenbiogenesefaktoren, d.h. sie erf��llen eine relevante Funktion in der Ribosomenbiogenese. Die Mutation von TCOF1 im Menschen f��hrt zur Ribosomopathie "Treacher Collins-Syndrom". F��r Bop1 sind bisher keine Mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75a864ff4de5d31d3822b817587eacd
Publikováno v:
MAMC Journal of Medical Sciences, Vol 4, Iss 2, Pp 96-99 (2018)
Franceschetti Syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It affects structures which are derivatives of the first and second brachial arches. It has a characteristic facial appearance as a resul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd4984d27f947eff87e1940d72b63e2
http://www.mamcjms.in/article.asp?issn=2394-7438
http://www.mamcjms.in/article.asp?issn=2394-7438
Publikováno v:
RepHipUNR (UNR)
Universidad Nacional de Rosario
instacron:UNR
Universidad Nacional de Rosario
instacron:UNR
Although the vertebrate head has evolved to a wide collection of adaptive shapes, the fundamental signalling pathways and cellular events that outline the head skeleton have proven to be highly conserved. This conservation suggests that major morphol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::a4489eae7121dd4b2fba5f6d78a197d8
Publikováno v:
Russian Otorhinolaryngology. 100:96-101
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf36736917baff79ed56553db8bdd679
https://doi.org/10.18692/1810-4800-2019-3-96-101
https://doi.org/10.18692/1810-4800-2019-3-96-101
Autor:
Nada R Chedid, Pascale Abou Rjiely
Publikováno v:
International Arab Journal of Dentistry. 9:25-31
Le syndrome de Treacher Collins (TCS), appele aussi syndrome de Franceschetti, est une malformation congenitale touchant la face, avec comme pathologies dentaires associees des hypoplasies, des agenesies dentaires, des anomalies d’eruption et de po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a27598e6023a36ca7d08bcc2ad159617
https://doi.org/10.12816/0046706
https://doi.org/10.12816/0046706
Akademický článek
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Publikováno v:
Chattagram Maa-O-Shishu Hospital Medical College Journal. 13:70-74
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after Edward Treacher Collins (1862-1932), the English surgeon and ophthalmologist, who de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::534f65bc3d9e7e5f3f343acdf4ada0a7
https://doi.org/10.3329/cmoshmcj.v13i2.21074
https://doi.org/10.3329/cmoshmcj.v13i2.21074