Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3054-3061

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families

By  

CONGENITAL ANOMALIES, Vol. 58, Iss. 1, 2018-01 ,pp. : 24-28

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

By Calado Joaquim   Soto Karina   Clemente Carla   Correia Pedro   Rueff José  

Human Genetics, Vol. 114, Iss. 3, 2004-02 ,pp. : 314-316

Springer Publishing Company

Access to resources Recommend Favorite

The Effect of Inbreeding on the Distribution of Compound Heterozygotes: A Lesson from Lipase H Mutations in Autosomal Recessive Woolly Hair/Hypotrichosis

By  

Human Heredity, Vol. 68, Iss. 2, 2009-04 ,pp. : 117-130

Karger

Access to resources Recommend Favorite

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

By Lefèvre Caroline  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2473-2482

Oxford University Press

Access to resources Recommend Favorite