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pro vyhledávání: '"Papoulidis I"'
Akademický článek
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Publikováno v:
Cancer Reports and Reviews. 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0711d1c3dd98f4d5bfae4bdb12ea87f7
https://doi.org/10.15761/crr.1000200
https://doi.org/10.15761/crr.1000200
Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been linked to malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. RYR1 is an intracellular calcium release channel and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::a1e5a1cc257cfe51f1ac213139745db8
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078980
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078980
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::6541b30cc614d511dbb7149cd64b2bcc
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997797
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2997797
Background: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::be43772ac7cd065552d249da3f68da09
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087069
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087069
Two cases of liveborn unrelated children with developmental delay and overlapping unbalanced translocations der(8)t(8;16)(p23.2;q23.3) and der (8)t(8;16)(p23.1;q23.1), leading to partial monosomy 8p and partial trisomy 16q, are reported in the presen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::8ef1976d52b18b5ea4d01e105875fcf3
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087355
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087355
Objective: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). Methods: This is a comparative study using data from 2779 fetuses, wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::85317414852dffc858fafcf656d48369
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3126089
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3126089
Background: FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::a549f8db9a9237e0e5c9116a5c3d741c
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086927
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086927