scholarly journals A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

2019 ◽  
Vol 5 (6) ◽  
pp. a003988 ◽  
Author(s):  
Aritoshi Iida ◽  
Kyoko Takano ◽  
Eri Takeshita ◽  
Chihiro Abe-Hatano ◽  
Shinichi Hirabayashi ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Pathogenic Variant ◽  
Review Of The Literature ◽  
Japanese Family

scholarly journals Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Stephanie M. Luco ◽  
Daniela Pohl ◽  
Erick Sell ◽  
Justin D. Wagner ◽  
David A. Dyment ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Review Of The Literature

scholarly journals A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature

2018 ◽  
Vol 9 (4) ◽  
pp. 175-181
Author(s):  
Giulia Parmeggiani ◽  
Barbara Buldrini ◽  
Sergio Fini ◽  
Alessandra Ferlini ◽  
Stefania Bigoni
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Language Impairment ◽  
Review Of The Literature

scholarly journals GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature

2019 ◽  
Vol 10 (4) ◽  
pp. 186-194 ◽  
Author(s):  
Milana Trubnykova ◽  
Jeny Bazalar Montoya ◽  
Jorge La Serna-Infantes ◽  
Flor Vásquez Sotomayor ◽  
María del Carmen Castro Mujica ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Dominant Type ◽  
Autosomal Dominant Type

Tuberculous brain abscess: A case report with a review of the literature in English

1999 ◽  
Vol 19 (3) ◽  
pp. 328-335
Author(s):  
Shanop Shuangshoti Shuangshoti ◽  
Samruay Shuangshoti
Keyword(s):  
Case Report ◽  
Brain Abscess ◽  
Review Of The Literature ◽  
Tuberculous Brain Abscess

Abstract #1038: Familial Dysalbuminemic Hyperthyroxinemia: A Case Report and Review of the Literature

2015 ◽  
Vol 21 ◽  
pp. 209-210
Author(s):  
Richa Bhattarai ◽  
Bidur Dhakal ◽  
Joseph Belsky ◽  
Nadja Pedersen ◽  
Maria Jan ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature
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