The RBMX gene as a candidate for the Shashi X‐linked intellectual disability syndrome

By  

CLINICAL GENETICS, Vol. 9-9163, Iss. 4, 2015-10 ,pp. : 386-390

John Wiley & Sons Inc

Access to resources Recommend Favorite

Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1

By  

HUMAN MUTATION, Vol. 36, Iss. 12, 2015-12 ,pp. : 1176-1187

John Wiley & Sons Inc

Access to resources Recommend Favorite

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia

By  

HUMAN MUTATION, Vol. 36, Iss. 12, 2015-12 ,pp. : 1155-1158

John Wiley & Sons Inc

Access to resources Recommend Favorite

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)

By  

CLINICAL GENETICS, Vol. 87, Iss. 3, 2015-03 ,pp. : 252-258

John Wiley & Sons Inc

Access to resources Recommend Favorite

Preliminary Evidence for Aortopathy and an X-Linked Parent-of-Origin Effect on Aortic Valve Malformation in a Mouse Model of Turner Syndrome

By Hinton Robert B.   Opoka Amy M.   Ojarikre Obah A.   Wilkinson Lawrence S.   Davies William  

Journal of Cardiovascular Development and Disease, Vol. 2, Iss. 3, 2015-07 ,pp. : 190-199

MDPI

Access to resources Recommend Favorite