Related content

Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly

By You Guoling   Zu Bailing   Wang Bo   Wang Zhigang   Xu Yunlan   Fu Qihua  

International Journal of Molecular Sciences, Vol. 18, Iss. 4, 2017-04 ,pp. : 626-626

MDPI

Access to resources Recommend Favorite

Novel Missense Mutation in the NOD2 Gene in a Patient with Early Onset Ulcerative Colitis: Causal or Chance Association?

By Girardelli Martina   Vuch Josef   Tommasini Alberto   Crovella Sergio   Bianco Anna Monica  

International Journal of Molecular Sciences, Vol. 15, Iss. 3, 2014-03 ,pp. : 3834-3841

MDPI

Access to resources Recommend Favorite

Functional Analysis of a Novel I71N Mutation in the GJB2 Gene Among Southern Egyptians Causing Autosomal Recessive Hearing Loss

By  

Cellular Physiology and Biochemistry, Vol. 26, Iss. 6, 2011-01 ,pp. : 959-966

Karger

Access to resources Recommend Favorite

A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome

By  

ANNALS OF HUMAN GENETICS, Vol. 79, Iss. 3, 2015-05 ,pp. : 218-224

John Wiley & Sons Inc

Access to resources Recommend Favorite

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

By Micheal Shazia   Niewold Ilse Therésia Gabriëla   Siddiqui Sorath Noorani   Zafar Saemah Nuzhat   Khan Muhammad Imran   Bergen Arthur A. B.  

Genes, Vol. 9, Iss. 2, 2018-02 ,pp. : 112-112

MDPI

Access to resources Recommend Favorite