Terkko Navigator / Genetics Terkko Navigator / Genetics - RSS Feed Genetics Terkko - University of Helsinki Library Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. https://www.ncbi.nlm.nih.gov/pubmed/31623983?dopt=Abstract 2019-10-19 16:52:37 Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients https://www.sciencedirect.com/science/article/pii/S2214426919301739?dgcid=rss_sd_all 2019-10-19 16:29:22 ITLN in diploid hybrid fish (Carassius auratus cuvieri♀ × Carassius auratus red var ♂) is involved in host defense against bacterial infection. https://www.ncbi.nlm.nih.gov/pubmed/31626818?dopt=Abstract 2019-10-19 15:37:48 Characterization of immune response against Mycobacterium marinum infection in the main hematopoietic organ of adult zebrafish (Danio rerio). https://www.ncbi.nlm.nih.gov/pubmed/31626817?dopt=Abstract 2019-10-19 15:37:48 MicroRNA-544 attenuates diabetic renal injury via suppressing glomerulosclerosis and inflammation by targeting FASN https://www.sciencedirect.com/science/article/pii/S0378111919306456?dgcid=rss_sd_all 2019-10-19 15:37:48 A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature https://www.sciencedirect.com/science/article/pii/S1769721218302568?dgcid=rss_sd_all 2019-10-19 14:29:45 Intrafamilial variability of XYLT2-related spondyloocular syndrome https://www.sciencedirect.com/science/article/pii/S1769721218306116?dgcid=rss_sd_all 2019-10-19 14:29:45 A previously identified missense mutation in STYXL1 is likely benign https://www.sciencedirect.com/science/article/pii/S1769721218306803?dgcid=rss_sd_all 2019-10-19 14:29:45 A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants https://www.sciencedirect.com/science/article/pii/S1769721218303987?dgcid=rss_sd_all 2019-10-19 14:29:45 Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia https://www.sciencedirect.com/science/article/pii/S1769721218302696?dgcid=rss_sd_all 2019-10-19 14:29:45 A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) https://www.sciencedirect.com/science/article/pii/S1769721218302210?dgcid=rss_sd_all 2019-10-19 14:29:45 A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia https://www.sciencedirect.com/science/article/pii/S1769721218301502?dgcid=rss_sd_all 2019-10-19 14:29:45 A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death https://www.sciencedirect.com/science/article/pii/S1769721218301605?dgcid=rss_sd_all 2019-10-19 14:29:45 Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes https://www.sciencedirect.com/science/article/pii/S1769721218301812?dgcid=rss_sd_all 2019-10-19 14:29:45 Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11 https://www.sciencedirect.com/science/article/pii/S1769721218302659?dgcid=rss_sd_all 2019-10-19 14:29:45 Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy https://www.sciencedirect.com/science/article/pii/S1769721218305718?dgcid=rss_sd_all 2019-10-19 14:29:45 FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency https://www.sciencedirect.com/science/article/pii/S1769721218304087?dgcid=rss_sd_all 2019-10-19 14:29:45 Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child https://www.sciencedirect.com/science/article/pii/S176972121830209X?dgcid=rss_sd_all 2019-10-19 14:29:45 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome https://www.sciencedirect.com/science/article/pii/S1769721218305573?dgcid=rss_sd_all 2019-10-19 14:29:45 Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder https://www.sciencedirect.com/science/article/pii/S1769721218305986?dgcid=rss_sd_all 2019-10-19 14:29:45 Inherited Metabolic Disorders in Adults: A view from Saudi Arabia https://www.sciencedirect.com/science/article/pii/S1769721218304762?dgcid=rss_sd_all 2019-10-19 14:29:45 Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families https://www.sciencedirect.com/science/article/pii/S1769721218302490?dgcid=rss_sd_all 2019-10-19 14:29:45 A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome https://www.sciencedirect.com/science/article/pii/S1769721218305743?dgcid=rss_sd_all 2019-10-19 14:29:45 Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study https://www.sciencedirect.com/science/article/pii/S1769721218300338?dgcid=rss_sd_all 2019-10-19 14:29:45 Editorial Board https://www.sciencedirect.com/science/article/pii/S1769721219307128?dgcid=rss_sd_all 2019-10-19 14:29:45 TNFα −857 C/T and TNFR2 +587 T/G polymorphisms are associated with cystic fibrosis in Iranian patients https://www.sciencedirect.com/science/article/pii/S1769721218303276?dgcid=rss_sd_all 2019-10-19 14:29:45 De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1006?af=R 2019-10-19 14:08:02 Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1004?af=R 2019-10-19 14:08:02 A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1003?af=R 2019-10-19 14:08:02 Nano-enhanced optical gene delivery to retinal degenerated mice. https://www.ncbi.nlm.nih.gov/pubmed/31625475?dopt=Abstract 2019-10-19 13:53:16 Genes, Vol. 10, Pages 826: Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies https://www.mdpi.com/2073-4425/10/10/826 2019-10-19 12:38:19 Diotic and dichotic frequency discrimination thresholds in musicians and non-musicians: relationships between perception, musical ability and self-evaluated competence. http://biorxiv.org/cgi/content/short/810598v1?rss=1 2019-10-19 11:07:31 Erosion of the Epigenetic Landscape and Loss of Cellular Identity as a Cause of Aging in Mammals http://biorxiv.org/cgi/content/short/808642v1?rss=1 2019-10-19 11:07:31 Rapid development and use of patient-specific ctDNA biomarkersto avoid a "rash decision" in an ovarian cancer patient [Research Report] http://molecularcasestudies.cshlp.org/cgi/content/short/mcs.a004648v1?rss=1 2019-10-19 10:37:26 The weakest link: uncertainty and sensitivity analysis of extinction probability estimates for tsetse (Glossina spp) populations http://biorxiv.org/cgi/content/short/810564v1?rss=1 2019-10-19 09:08:51 Optimal fertigation for high yield and fruit quality of greenhouse strawberry http://biorxiv.org/cgi/content/short/810606v1?rss=1 2019-10-19 09:08:51 Correlation between Serum Kisspeptin and Spermatogenic Function in Men http://biorxiv.org/cgi/content/short/810572v1?rss=1 2019-10-19 09:08:51 Genome-wide variations analysis of special waxy sorghum cultivar Hongyingzi for brewing Moutai liquor http://biorxiv.org/cgi/content/short/810580v1?rss=1 2019-10-19 09:08:51 Tensor Factorization-based Prediction with an Application to Estimating the Risk of Chronic Diseases http://biorxiv.org/cgi/content/short/810556v1?rss=1 2019-10-19 09:08:51 Cleavage, down-regulation and aggregation of serum amyloid A http://biorxiv.org/cgi/content/short/811398v1?rss=1 2019-10-19 09:08:51 Liquid-like and rigid-body motions in molecular-dynamics simulations of a crystalline protein http://biorxiv.org/cgi/content/short/811083v1?rss=1 2019-10-19 09:08:51 In response to Luteijn et al.: Concerns regarding cGAMP uptake assay and evidence that SLC19A1 is not the major cGAMP importer in human PBMCs http://biorxiv.org/cgi/content/short/798397v1?rss=1 2019-10-19 09:08:51 Activation of phospholipase C β by Gβγ and Gαq involves C-terminal rearrangement to release auto-inhibition http://biorxiv.org/cgi/content/short/810994v1?rss=1 2019-10-19 09:08:51 Elevated Expression of a Functional Suf Pathway in the E. coli BL21(DE3) Cell Line Enhances Recombinant Production of an Iron-Sulfur Cluster Containing Protein. http://biorxiv.org/cgi/content/short/811059v1?rss=1 2019-10-19 09:08:51 Integrative Modeling of a Sin3/HDAC Complex Sub-structure http://biorxiv.org/cgi/content/short/810911v1?rss=1 2019-10-19 09:08:51 kSHREC \'Delta\' reflects the shape of kinetochore rather than intrakinetochore tension http://biorxiv.org/cgi/content/short/811075v1?rss=1 2019-10-19 09:08:51 SiCloneFit: Bayesian inference of population structure, genotype, and phylogeny of tumor clones from single-cell genome sequencing data [METHOD] http://genome.cshlp.org/cgi/reprint/gr.243121.118v1?rss=1 2019-10-19 07:20:42 PhISCS: a combinatorial approach for subperfect tumor phylogeny reconstruction via integrative use of single-cell and bulk sequencing data [METHOD] http://genome.cshlp.org/cgi/reprint/gr.234435.118v1?rss=1 2019-10-19 07:20:42 Time distributed data analysis by Cosinor.Online application http://biorxiv.org/cgi/content/short/805960v1?rss=1 2019-10-18 22:52:41 Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants http://dx.doi.org/10.1007/s13353-019-00523-w 2019-10-18 22:21:17