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Works matching IS 1099498X AND DT 2017 AND VI 19 AND IP 4

Results: 6

1

Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.

Published in:

Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2952

By:

Viggiano, Emanuela;
Picillo, Esther;
Ergoli, Manuela;
Cirillo, Alessandra;
Del Gaudio, Stefania;
Politano, Luisa

Publication type:

Article

2

Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.

Published in:

Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2950

By:

Kim, Bong Jik;
Kim, Ah Reum;
Han, Jin Hee;
Lee, Chung;
Oh, Doo Yi;
Choi, Byung Yoon

Publication type:

Article

3

Issue Information.

Published in:: Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2908
Publication type:: Article

4

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.

Published in:

Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2948

By:

Wang, Hong ‐ Dan;
Liu, Lin;
Wu, Dong;
Li, Tao;
Cui, Cun ‐ Ying;
Zhang, Lian ‐ Zhong;
Wang, Cheng ‐ Zeng

Publication type:

Article

5

Association of IGF1 gene polymorphism with Parkinson's disease in a Han Chinese population.

Published in:

Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2949

By:

Xiao, Yousheng;
Cen, Luan;
Mo, Mingshu;
Chen, Xiang;
Huang, Shuxuan;
Wei, Lei;
Li, Shaomin;
Yang, Xinling;
Qu, Shaogang;
Pei, Zhong;
Xu, Pingyi

Publication type:

Article

6

Characterization of a novel POLD1 missense founder mutation in a Spanish population.

Published in:

Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2951

By:

Ferrer ‐ Avargues, Rosario;
Díez ‐ Obrero, Virginia;
Martín ‐ Tomás, Ester;
Hernández ‐ Illán, Eva;
Castillejo, María ‐ Isabel;
Codoñer ‐ Alejos, Alan;
Barberá, Víctor ‐ Manuel;
Sánchez ‐ Heras, Ana ‐ Beatriz;
Segura, Ángel;
Juan, María ‐ José;
Tena, Isabel;
Castillejo, Adela;
Soto, José ‐ Luis

Publication type:

Article