Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Saldarriaga‐Gil, Wilmar"'
Publikováno v:
Iatreia, Vol 30, Iss 4, Pp 455-462 (2017)
Cohen syndrome (CS) is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intellectual disability, microcephaly, facial dysmorphism, ophthalmic abnormalities, tru
Externí odkaz:
https://doaj.org/article/16093809e49e4754afcd153b9d41b612
Publikováno v:
Iatreia, Vol 29, Iss 3, Pp 352-358 (2016)
Ehlers-Danlos syndrome comprises a group of hereditary disordes that share skin hyperextensibility, joint hipermobility and tissular fragility manifested as diminished tensile strenght and integrity of skin and joints. The estimated frequency, for th
Externí odkaz:
https://doaj.org/article/bb667760e58847c29421715b2faf7376
Publikováno v:
Iatreia, Vol 29, Iss 1, Pp 81-87 (2016)
Piebaldism is a rare congenital disease with prevalence of 1/100.000, characterized by patchy depigmentation of the skin and the presence of a white forelock. Its course is static and otherwise patients are healthy. It is inherited in an autosomal do
Externí odkaz:
https://doaj.org/article/ebc7204be6274df4a5ac90dd223c7e19
Autor:
Saldarriaga‐Gil, Wilmar1 (AUTHOR) wilmar.saldarriaga@correounivalle.edu.co, Cabal‐Herrera, Ana Maria1 (AUTHOR), Fandiño‐Losada, Andrés1 (AUTHOR), Vásquez, Andrés1 (AUTHOR), Hagerman, Randi2 (AUTHOR), Tassone, Flora2,3 (AUTHOR)
Publikováno v:
Journal of Applied Research in Intellectual Disabilities. May2021, Vol. 34 Issue 3, p830-839. 10p.
Publikováno v:
Revista Colombiana de Obstetricia y Ginecologia; jul-sep2023, Vol. 74 Issue 3, p1-7, 7p
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