Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

By Littink Karin W.   Stappers Patricia T. Y.   Riemslag Frans C. C.   Talsma Herman E.   van Genderen Maria M.   Cremers Frans P. M.   Collin Rob W. J.   van den Born L. Ingeborgh  

Genes, Vol. 9, Iss. 2, 2018-01 ,pp. : 68-68

MDPI

Access to resources Recommend Favorite

Mutations in SLC6A17 cause autosomal‐recessive intellectual disability

By  

CLINICAL GENETICS, Vol. 88, Iss. 2, 2015-08 ,pp. : 136-137

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

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

By  

HUMAN MUTATION, Vol. 36, Iss. 11, 2015-11 ,pp. : 1112-1112

John Wiley & Sons Inc

Access to resources Recommend Favorite

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

By  

JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 884-0431, Iss. 10, 2015-10 ,pp. : 1814-1821

John Wiley & Sons Inc

Access to resources Recommend Favorite