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Journal of Clinical Oncology, ISSN 0732-183X, 05/2018, Volume 36, Issue 15_suppl, pp. 2521 - 2521
Journal Article
FEBS Open Bio, ISSN 2211-5463, 11/2019, Volume 9, Issue 11, pp. 1994 - 2005
Loss‐of‐function mutations in the low‐density lipoprotein receptor (LDLR) gene can cause familial hypercholesterolemia (FH), but detailed functional evidence... 
ERAD | VLDLR | LDLR | missense mutation | Amino acids | Cardiovascular disease | Glycosylation | mRNA | Mammals | Retention | Patients | Low density lipoprotein | Cholesterol | Pathogenicity | Proteins | Hypercholesterolemia | Microscopy | Coronary vessels | Quality control | Conflicts of interest | Receptor density | Lipoprotein (low density) receptors | Mutation | Protein transport | Endoplasmic reticulum
Journal Article
Molecular Syndromology, ISSN 1661-8769, 05/2019, Volume 10, Issue 3, pp. 171 - 176
The DONSON gene encodes the downstream neighbor of SON, a replisome component that stabilizes the replication fork during replication. A severe form of... 
Novel Insights from Clinical Practice | Replication fork stability | Intrauterine growth restriction | Microcephaly-micromelia syndrome | MUTATIONS | GENETICS & HEREDITY
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2016, Volume 170, Issue 8, pp. i - i
The cover image, by Lihadh Al Gazali et al., is based on the Original Article A recessive syndrome of intellectual disability, moderate overgrowth, and renal... 
Journal Article
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 12/2013, Volume 97, Issue 12, pp. 764 - 769
Journal Article
Meta Gene, ISSN 2214-5400, 09/2015, Volume 5, pp. 135 - 139
Schizophrenia is a clinically and genetically heterogeneous disorder of unknown etiology. variants have been linked to schizophrenia and other related... 
Schizophrenia | Genetics | PICK1 | NRG3 | PDLIM5 | DISC1
Journal Article
Human Mutation, ISSN 1059-7794, 03/2013, Volume 34, Issue 3, pp. 498 - 505
We have recently shown that the hemorrhagic destruction of the brain, subependymal, calcification, and congenital cataracts is caused by biallelic mutations in... 
Journal Article
Human Genome Variation, 03/2015, Volume 2, p. 15001
Journal Article