Zobrazeno 1 - 10
of 66
pro vyhledávání: '"facial dysmorphia"'
Publikováno v:
Juvenis Scientia, Vol 7, Iss 4, Pp 22-31 (2021)
Currently, hereditary connective tissue disorders (HCTD) are divided into hereditary syndromes — rare diseases that are diagnosed according to internationally agreed criteria (Marfan, Ehlers-Danlos, Stickler, Loeys-Dietz syndromes, and others), and
Externí odkaz:
https://doaj.org/article/250c59c3a55c475b857c979aec863394
Publikováno v:
The Pan African Medical Journal, Vol 37, Iss 349 (2020)
The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive d
Externí odkaz:
https://doaj.org/article/62b05830545840ceafcdedcb90566cf2
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 87-91 (2018)
Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defect
Externí odkaz:
https://doaj.org/article/1103a5cb41d14262bef68e95ca9b8d6b
Publikováno v:
Societas/Communitas. (26 (2-2)):141-159
Externí odkaz:
https://www.ceeol.com/search/article-detail?id=803470
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Bechakh, Islam
Publikováno v:
Annales Africaines de Medecine; Vol. 15 No. 2 (2022); e4626-e4628
Stickler syndrome, also known as hereditary arthroophtalmopathy, is a dominantly inherited polymarformative syndrome characterized by clinical signs as follows: i) polyepiphyseal dysplasia that can lead to early arthrosis, ii) bilateral myopia that i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a0149a88fa9d1aed1389918b5efc08
https://doi.org/10.4314/aamed.v15i2.13
https://doi.org/10.4314/aamed.v15i2.13
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Pan African Medical Journal; Vol. 37 No. 1 (2020)
The Pan African Medical Journal
The Pan African Medical Journal
The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b009c1d21914308beaac46db1298de09
https://www.ajol.info/index.php/pamj/article/view/231043
https://www.ajol.info/index.php/pamj/article/view/231043
Autor:
M Vaisvilas, V Dirse, Algirdas Utkus, B Aleksiuniene, J Rascon, Loreta Cimbalistiene, I Tamuliene
Publikováno v:
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 87-91 (2018)
Balkan journal of medical genetics, Scopje : Macedonian Academy of Sciences and Arts, 2018, vol. 21, iss. 1, p. 87-91
Balkan journal of medical genetics, Scopje : Macedonian Academy of Sciences and Arts, 2018, vol. 21, iss. 1, p. 87-91
Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee3797b715b5262fe0df6cd22ab28aa
https://doaj.org/article/1103a5cb41d14262bef68e95ca9b8d6b
https://doaj.org/article/1103a5cb41d14262bef68e95ca9b8d6b