Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum

By Fischer Sven   Lüdecke Hermann-Josef   Wieczorek Dagmar   Böhringer Stefan   Gillessen-Kaesbach Gabriele   Horsthemke Bernhard  

Human Molecular Genetics, Vol. 15, Iss. 4, 2006-02 ,pp. : 581-587

Oxford University Press

Access to resources Recommend Favorite

Paternal uniparental disomy chromosome 14‐like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG‐ and the MEG3‐DMRs: Patient report and genotype–phenotype correlation

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3130-3138

John Wiley & Sons Inc

Access to resources Recommend Favorite

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome

By  

Molecular Syndromology, Vol. 5, Iss. 1, 2013-11 ,pp. : 11-18

Karger

Access to resources Recommend Favorite

Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 837-841

John Wiley & Sons Inc

Access to resources Recommend Favorite

Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder

By  

American Journal Of Medical Genetics. Part B: Neuropsychiatric Genetics, Vol. 168, Iss. 4, 2015-06 ,pp. : 258-264

John Wiley & Sons Inc

Access to resources Recommend Favorite