scholarly journals Founder mutation inKCNJ10in Pakistani patients with EAST syndrome

2016 ◽  
Vol 4 (5) ◽  
pp. 521-526 ◽  
Author(s):  
Ola Abdelhadi ◽  
Daniela Iancu ◽  
Mehmet Tekman ◽  
Horia Stanescu ◽  
Detlef Bockenhauer ◽  
...  
Keyword(s):  
Founder Mutation ◽  
East Syndrome

scholarly journals The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family

2009 ◽  
Vol 18 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Erik F Hensen ◽  
Jeroen C Jansen ◽  
Maaike D Siemers ◽  
Jan C Oosterwijk ◽  
Annette HJT Vriends ◽  
...  
Keyword(s):  
Founder Mutation ◽  
Multigenerational Family ◽  
Reduced Penetrance

The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy

2007 ◽  
Vol 17 (6) ◽  
pp. 387-392 ◽  
Author(s):  
Francesca Gensini ◽  
Roberta Sestini ◽  
Mauro Piazzini ◽  
Marina Vignoli ◽  
Alessandra Chiarugi ◽  
...  
Keyword(s):  
High Risk ◽  
Founder Mutation ◽  
Central Italy ◽  
High Risk Melanoma ◽  
Risk Melanoma

scholarly journals A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

2015 ◽  
Vol 3 (2) ◽  
pp. 92-98 ◽  
Author(s):  
Samiah A. Al‐Zaidy ◽  
Vinod Malik ◽  
Kelley Kneile ◽  
Xiomara Q. Rosales ◽  
Ana Maria Gomez ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Puerto Rican ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Progressive Form

Identification of a SCN5A Founder Mutation Causing Sudden Death, Brugada Syndrome and Conduction Blocks in Southern Italy

Heart Rhythm ◽  
2021 ◽  
Author(s):  
Antonio Curcio ◽  
Alberto Malovini ◽  
Andrea Mazzanti ◽  
Mirella Memmi ◽  
Patrick Gambelli ◽  
...  
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Southern Italy ◽  
Founder Mutation

Psychiatric Manifestation of EAST Syndrome

2016 ◽  
Vol 36 (2) ◽  
pp. 185-187
Author(s):  
Simone Pisano ◽  
Francesca Felicia Operto ◽  
Tullio Messana ◽  
Claudia Nicoletti ◽  
Giangennaro Coppola
Keyword(s):  
Psychiatric Manifestation ◽  
East Syndrome
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