LIS1 and XLIS ( DCX ) mutations cause most classical lissencephaly, but different patterns of malformation

By Barkovich A.J.  

Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2029-2037

Oxford University Press

Access to resources Recommend Favorite

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

By Schachter S.C.  

Human Molecular Genetics, Vol. 10, Iss. 17, 2001-08 ,pp. : 1775-1783

Oxford University Press

Access to resources Recommend Favorite

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

By Doné S.C.  

Human Molecular Genetics, Vol. 10, Iss. 23, 2001-11 ,pp. : 2637-2644

Oxford University Press

Access to resources Recommend Favorite

Comparison of BRCA1 Polymorphisms, Rare Sequence Variants and/or Missense Mutations in Unaffected and Breast/Ovarian Cancer Populations

By Durocher Francine   Shattuck-Eidens Donna   McClure Melody   Labrie Fernand   Skolnick Mark H.   Goldgar David E.   Simard Jacques  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 835-842

Oxford University Press

Access to resources Recommend Favorite

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

By Twigg Stephen R.F.   Babbs Christian   van den Elzen Marijke E.P.   Goriely Anne   Taylor Stephen   McGowan Simon J.   Giannoulatou Eleni   Lonie Lorne   Ragoussis Jiannis   Akha Elham Sadighi   Knight Samantha J.L.   Zechi-Ceide Roseli M.   Hoogeboom Jeannette A.M.   Pober Barbara R.   Toriello Helga V.   Wall Steven A.   Rita Passos-Bueno M.   Brunner Han G.   Mathijssen Irene M.J.   Wilkie Andrew O.M.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1654-1662

Oxford University Press

Access to resources Recommend Favorite