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Journal Article
Seminars in Vascular Medicine, ISSN 1528-9648, 02/2004, Volume 4, Issue 1, pp. 5 - 11
Uptake of cholesterol, mediated by the low-density lipoprotein (LDL)-receptor, plays a crucial role in lipoprotein metabolism. The LDL-receptor is responsible... 
Mutation class | Familial hypercholesterolemia | Genotype-phenotype | Receptors, LDL - genetics | Genotype | Receptors, LDL - ultrastructure | Receptors, LDL - physiology | Mutation - genetics | Humans
Journal Article
Nagoya Journal of Medical Science, ISSN 0027-7622, 12/2016, Volume 78, Issue 4, pp. 485 - 492
Darier’s disease (DD, keratosis follicularis: OMIM#124200) is an autosomal dominant skin disorder characterized by multiple dark brown keratotic plaques and... 
SERCA2 | mutation | Darier’s disease | phenotype correlation | Original Paper | ATP2A2 | genotype
Journal Article
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 07/2019, Volume 515, Issue 2, pp. 359 - 365
SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss (DFNB4). The mouse model is well used to study the pathology of Pendred... 
Pendred syndrome | Vestibular dysfunction | Mouse model | CRISPR/Cas9 | SLC26A4 | Hearing loss | GENOTYPE-PHENOTYPE CORRELATION | CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | INSIGHT | HEARING-LOSS | COCHLEAR | BIOPHYSICS | UNCONVENTIONAL MYOSIN | DEAFNESS | EXPRESSION | Deafness | Medical research | Gene mutations | Developmental biology | Analysis | Medicine, Experimental | Genetic aspects
Journal Article
Journal of Proteomics, ISSN 1874-3919, 01/2014, Volume 96, pp. 145 - 158
Understanding the molecular basis of the phenotype is key to understanding adaptation, and the relationship between genes and specific traits is represented by... 
Liquid chromatography | Snake venomics | Crotalus adamanteus | Genotype–phenotype map | Transcriptomics | Mass spectrometry | Genotype-phenotype map | PHYLOGENETIC ANALYSIS | BIOCHEMICAL RESEARCH METHODS | PHENOTYPE | ORIGIN | EVOLUTION | CORAL SNAKE | GENES | GLAND TRANSCRIPTOME | Poisonous snakes | Proteins | RNA | Analysis | Venom | Rattlesnakes
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2010, Volume 1, Issue 1, pp. 2 - 26
Noonan syndrome (NS) is a relatively common, clinically variable and genetically heterogeneous developmental disorder characterized by postnatally reduced... 
Review Article | Cardiofaciocutaneous syndrome | Genotype-phenotype correlations | Neurocardiofacialcutaneous syndrome family | Noonan syndrome | Costello syndrome | Molecular epidemiology | Molecular basis of disease | Mutation analysis | LEOPARD syndrome | RAS signaling | Review
Journal Article
Journal Article
Lancet, The, ISSN 0140-6736, 2009, Volume 373, Issue 9679, pp. 1974 - 1986
Journal Article
Human Mutation, ISSN 1059-7794, 2019, Volume 40, Issue 8, pp. 1013 - 1029
SATB2‐associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of... 
SATB2‐associated syndrome | genotype‐phenotype correlation | pathogenic variants | SATB2 | whole exome sequencing | SATB2-associated syndrome | genotype-phenotype correlation | GENETICS & HEREDITY | Genetic aspects | Codon | Genes | Analysis | Animal models | Phenotypes | Reviews | Nonsense mutation | Coding | Stop codon | Neurodevelopmental disorders | Genotypes | Hereditary diseases
Journal Article
Seminars in Cell and Developmental Biology, ISSN 1084-9521, 04/2019, Volume 88, pp. 67 - 79
Journal Article