A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation

2007 ◽  
Vol 28 (4) ◽  
pp. 379-383 ◽  
Author(s):  
Zubeyde Gunduz ◽  
Ismail Dursun ◽  
Juan I. Aróstegui ◽  
Jordi Yagüe ◽  
Ruhan Dusunsel ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Turkish Case

scholarly journals The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

2011 ◽  
Vol 20 (3) ◽  
pp. 357-360 ◽  
Author(s):  
Dario Ronchi ◽  
Monica Sciacco ◽  
Andreina Bordoni ◽  
Monika Raimondi ◽  
Michela Ripolone ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Respiratory Impairment

Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?

2017 ◽  
Vol 81 (3) ◽  
pp. 125-128 ◽  
Author(s):  
Priya Hariharan ◽  
Manju Gorivale ◽  
Roshan Colah ◽  
Kanjaksha Ghosh ◽  
Anita Nadkarni
Keyword(s):  
Gene Mutation ◽  
Fetal Hemoglobin ◽  
The Novel ◽  
Klf1 Gene

The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash Syndrome

2010 ◽  
Vol 32 (6) ◽  
pp. 486-488 ◽  
Author(s):  
Mara Sanches Guaragna ◽  
Fernanda Caroline Soardi ◽  
Juliana Godoy Assumpção ◽  
Lílian de Jesus Girotto Zambaldi ◽  
Izilda Aparecida Cardinalli ◽  
...  
Keyword(s):  
Gene Mutation ◽  
The Novel ◽  
Wt1 Gene ◽  
Drash Syndrome

3.078 THE NOVEL THAP1 GENE MUTATION, CHARACTERIZED BY PHENOTYPICAL HETEROGENEITY

2012 ◽  
Vol 18 ◽  
pp. S188-S189
Author(s):  
D. Koziorowski ◽  
M. Jurek ◽  
D. Hoffman-Zacharska ◽  
J. Bal ◽  
A. Friedman
Keyword(s):  
Gene Mutation ◽  
The Novel

scholarly journals A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

2017 ◽  
Vol 129 ◽  
pp. 59-61 ◽  
Author(s):  
Dragan Katanic ◽  
Ivana Vorgučin ◽  
Andrew Hattersley ◽  
Sian Ellard ◽  
Jayne A.L. Houghton ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Male Infant ◽  
Neonatal Diabetes ◽  
The Novel ◽  
Successful Transition ◽  
Abcc8 Gene

Functional Significance of the Novel H-RAS Gene Mutation M72I in a Patient with Medullary Thyroid Cancer

2013 ◽  
Vol 121 (09) ◽  
pp. 546-550 ◽  
Author(s):  
S. Barollo ◽  
R. Pezzani ◽  
A. Cristiani ◽  
L. Bertazza ◽  
B. Rubin ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Gene Mutation ◽  
Functional Significance ◽  
Medullary Thyroid Cancer ◽  
The Novel ◽  
Ras Gene ◽  
Medullary Thyroid

The novel steroidal glycoside from the dried bulb of Allium Macrostemon Bunge inhibits platelet activation

2010 ◽  
Vol 34 (8) ◽  
pp. S33-S33
Author(s):  
Wenchao Ou ◽  
Haifeng Chen ◽  
Yun Zhong ◽  
Benrong Liu ◽  
Keji Chen
Keyword(s):  
Platelet Activation ◽  
The Novel ◽  
Steroidal Glycoside ◽  
Allium Macrostemon
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