Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Normal intellect"'
Autor:
Ella Macaskill
Face recognition is a fundamental cognitive function that is essential for social interaction – yet not everyone has it. Developmental prosopagnosia is a lifelong condition in which people have severe difficulty recognising faces but have normal in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92581fcaa37703000c3ad5b8eb82470c
https://doi.org/10.26686/wgtn.16416717.v1
https://doi.org/10.26686/wgtn.16416717.v1
Publikováno v:
American Journal of Medical Genetics Part A. 182:1313-1315
Burn-McKeown syndrome (BMKS) (MIM# 608572) is a rare condition caused by biallelic variants in TXNL4A. BMKS is characterized by craniofacial dysmorphism, choanal atresia, and normal intellect in affected individuals. BMKS has overlapping clinical fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a689f346348e6231a57f2b8637e62bb0
https://doi.org/10.1002/ajmg.a.61554
https://doi.org/10.1002/ajmg.a.61554
Publikováno v:
J Pediatr Genet
Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by mutations in RECQL4 and has characteristic clinical features. We report two unrelated phenotypically diverse patients (cases 1 and 2) with RTS having novel variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df452a3745a525fb622fe2c6124b2b34
https://doi.org/10.1055/s-0039-1684017
https://doi.org/10.1055/s-0039-1684017
Autor:
Marilena Bratu, Florin Emil Verza
Publikováno v:
Procedia - Social and Behavioral Sciences. 76:124-129
This study aims at the examination of the way the creative behaviours are displayed in the pubescent and adolescents with mental disability, as compared to the ones with normal intellect. The display of these behaviours is important in order to incre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6d3a62335e87234e5b04d68a4fbb04
https://doi.org/10.1016/j.sbspro.2013.04.085
https://doi.org/10.1016/j.sbspro.2013.04.085
Autor:
Nathalie Jette, Jonathan D. Fridhandler, Peter Tai, Danielle M. Andrade, Fernando Morgadinho Santos Coelho
Publikováno v:
Epilepsy & Behavior. 25:196-199
We describe and compare the antiepileptic drug (AED) management in patients with severe intellectual disability (ID) and those with normal intellect (NI) and focal epilepsy at a tertiary epilepsy center. Fifty patients with ID were compared to a cont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2f83979fa32f699f330a9796aa1fba
https://doi.org/10.1016/j.yebeh.2012.07.029
https://doi.org/10.1016/j.yebeh.2012.07.029
Autor:
M. Löning, H. Arnold, Alf Giese, F. Stellmacher, U. Knopp, Sven R. Kantelhardt, H. von Domarus, A. Knopp, E. Reusche
Publikováno v:
Central European Neurosurgery. 70:43-47
Basal encephaloceles in western countries occur in 1 of every 35 000-40 000 live births; with an incidence of less than 10% they are the least common of all encephaloceles. Certain subtypes such as transsphenoidal variants may be as rare as 1 in 700
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0657e82d25526db7d46895e3858dc628
https://doi.org/10.1055/s-0028-1082321
https://doi.org/10.1055/s-0028-1082321
Autor:
Shyam S. Agarwal, Vijayalakshmi Bhatia, Rajendra V. Phadke, Ratni B. Gujral, Ashutosh Halder, J. Pahi, Anita Sharma
Publikováno v:
American Journal of Medical Genetics. 80:12-15
We describe a 7-year-boy with severe prenatal and postnatal growth retardation, skeletal changes, normal intellect, and unusual facial appearance. The skeletal changes are suggestive of osteodysplastic primordial dwarfism type II (OPD II). He is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1d883378e5a5f22fd3b52a43d472a0b7
https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<12::aid-ajmg3>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<12::aid-ajmg3>3.0.co
Publikováno v:
American journal of medical genetics. Part A. (1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53e0282f9e11b4792b8ea57e337992b4
https://pubmed.ncbi.nlm.nih.gov/21204239
https://pubmed.ncbi.nlm.nih.gov/21204239