Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

By  

CLINICAL GENETICS, Vol. 87, Iss. 5, 2015-05 ,pp. : 496-498

John Wiley & Sons Inc

Access to resources Recommend Favorite

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

By  

HUMAN MUTATION, Vol. 34, Iss. 11, 2013-11 ,pp. : 1501-1509

John Wiley & Sons Inc

Access to resources Recommend Favorite

Modeling GATAD1-Associated Dilated Cardiomyopathy in Adult Zebrafish

By Yang Jingchun   Shah Sahrish   Olson Timothy M.   Xu Xiaolei  

Journal of Cardiovascular Development and Disease, Vol. 3, Iss. 1, 2016-01 ,pp. : 6-6

MDPI

Access to resources Recommend Favorite

Dysregulated IER3 Expression is Associated with Enhanced Apoptosis in Titin-Based Dilated Cardiomyopathy

By Zhou Qifeng   Hahn Julia Kelley   Neupane Balram   Aidery Parwez   Labeit Siegfried   Gawaz Meinrad   Gramlich Michael  

International Journal of Molecular Sciences, Vol. 18, Iss. 4, 2017-03 ,pp. : 723-723

MDPI

Access to resources Recommend Favorite

Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin

By  

CLINICAL GENETICS, Vol. 93, Iss. 2, 2018-02 ,pp. : 412-416

John Wiley & Sons Inc

Access to resources Recommend Favorite