scholarly journals Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

2020 ◽  
Vol 35 (1) ◽  
pp. e93-e93 ◽  
Author(s):  
Majid Zaki-Dizaji ◽  
Mohammad Tajdini ◽  
Fatemeh Kiaee ◽  
Hossein Shojaaldini ◽  
Reza Shervin Badv ◽  
...  
Keyword(s):  
Case Report ◽  
Ataxia Telangiectasia ◽  
Novel Mutations

scholarly journals Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature

Leukemia ◽  
2001 ◽  
Vol 15 (10) ◽  
pp. 1668-1670 ◽  
Author(s):  
N Viniou ◽  
E Terpos ◽  
J Rombos ◽  
G Vaiopoulos ◽  
K Nodaros ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Case Report ◽  
Ataxia Telangiectasia ◽  
Myeloid Leukemia ◽  
Review Of The Literature ◽  
Acute Myeloid

scholarly journals A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene

2016 ◽  
Vol 36 (3) ◽  
pp. 304-309 ◽  
Author(s):  
Wojciech Wolyniec ◽  
Sonia Kaniuka- Jakubowska ◽  
Mato Nagel ◽  
Zuzanna Wolyniec ◽  
Lukasz Obolonczyk ◽  
...  
Keyword(s):  
Case Report ◽  
Gitelman Syndrome ◽  
Novel Mutations ◽  
Slc12a3 Gene

Ataxia telangiectasia and mucoepidermoid carcinoma of the parotid gland: a case report

1996 ◽  
Vol 37 (1) ◽  
pp. 79-84 ◽  
Author(s):  
A.Şefik Hoşal ◽  
Taner Yilmaz ◽  
Oğuz Öğretmenoğlu ◽  
Figen Söylemezoğlu
Keyword(s):  
Case Report ◽  
Parotid Gland ◽  
Ataxia Telangiectasia ◽  
Mucoepidermoid Carcinoma

Ataxia-telangiectasia syndrome without ataxia: a case report

2016 ◽  
Vol 4 (1) ◽  
Author(s):  
María Claudia Ortega López ◽  
Ágatha León Quintero
Keyword(s):  
Case Report ◽  
Ataxia Telangiectasia

Novel Mutations in Ataxia Telangiectasia and AOA2 Associated with Prolonged Survival (P05.028)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P05.028-P05.028
Author(s):  
M. Davis ◽  
C. Smith ◽  
C. Sheehy ◽  
S. D. Batish ◽  
P. Swanson ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Prolonged Survival ◽  
Novel Mutations

Cutaneous granuloma with ataxia telangiectasia-a case report and review of literature

1993 ◽  
Vol 18 (5) ◽  
pp. 458-561 ◽  
Author(s):  
R.K. JOSHI ◽  
R.H. AL ASIRI ◽  
A. HALEKM ◽  
A. ABANMI ◽  
C.K. PATEL
Keyword(s):  
Case Report ◽  
Ataxia Telangiectasia ◽  
Review Of Literature ◽  
Cutaneous Granuloma
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