Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

By Wuyts Wim   Reardon William  

Human Molecular Genetics, Vol. 9, Iss. 8, 2000-05 ,pp. : 1251-1255

Oxford University Press

Access to resources Recommend Favorite

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test

By Brandt Annebill   Schleithoff Lothar   Jurkat-Rott Karin   Klingler Werner   Baur Christoph   Lehmann-Horn Frank  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2055-2062

Oxford University Press

Access to resources Recommend Favorite

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

By Klauke Baerbel   Kossmann Sabine   Gaertner Anna   Brand Kristina   Stork Ines   Brodehl Andreas   Dieding Mareike   Walhorn Volker   Anselmetti Dario   Gerdes Dsire   Bohms Birte   Schulz Uwe   zu Knyphausen Edzard   Vorgerd Matthias   Gummert Jan   Milting Hendrik  

Human Molecular Genetics, Vol. 19, Iss. 23, 2010-12 ,pp. : 4595-4607

Oxford University Press

Access to resources Recommend Favorite

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 mutations in G protein-coupled receptor gene ( P2RY5 ) in families with autosomal recessive hypotrichosis (LAH3)

By Azeem Zahid  

Human Genetics, Vol. 123, Iss. 5, 2008-06 ,pp. : 515-519

Springer Publishing Company

Access to resources Recommend Favorite