A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

By  

CLINICAL & EXPERIMENTAL DERMATOLOGY, Vol. 307-6938, Iss. 7, 2015-10 ,pp. : 757-760

John Wiley & Sons Inc

Access to resources Recommend Favorite

Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small‐platelet thrombocytopenia

By  

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol. 13, Iss. 7, 2015-07 ,pp. : 1285-1292

John Wiley & Sons Inc

Access to resources Recommend Favorite

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

By Remes Anne   Filppula Sirpa   Rantala Heikki   Leisti Jaakko   Ruokonen Aimo   Sharma Satyan   Juffer André   Hiltunen J.  

Journal of Molecular Medicine, Vol. 82, Iss. 8, 2004-08 ,pp. : 550-554

Springer Publishing Company

Access to resources Recommend Favorite

Novel ITGB6 mutation in autosomal recessive amelogenesis imperfecta

By  

ORAL DISEASES, Vol. 21, Iss. 4, 2015-05 ,pp. : 456-461

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis

By  

THE JOURNAL OF DERMATOLOGY, Vol. 42, Iss. 8, 2015-08 ,pp. : 822-824

John Wiley & Sons Inc

Access to resources Recommend Favorite