Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas
GBD Chronic Kidney Disease Collaboration Global, regional, and national burden of chronic kidney disease, 1990–2017: a systematic analysis…
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
Clinical features and rare complications in 132 patients with hepatic glycogenosis | Orphanet Journal of Rare Diseases
The overall incidence of GSDs is approximately 1 case per 20,000–43,000 live births, and 80% of hepatic GSDs…
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Fogg, C. et al. The dynamics of frailty development and progression in older adults in primary care in…
Gitam institute of medical sciences and research to organise CME on genes, morphology on August 22 | Vijayawada News
Visakhapatnam: The department of anatomy at Gitam institute of medical sciences and research (GIMSR) will organise a programme…
Bridging psychiatry and rare genetic diseases: a scoping review of therapeutic strategies and diagnostic delay paired with healthcare economic burden analysis | Orphanet Journal of Rare Diseases
Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y,…
When ganglioside pathways go awry: congenital disorders and experimental insights
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…
Natural variation in SBRR1 shows high potential for sheath blight resistance breeding in rice
GWAS identifies SBRR1 tightly associated with ShB resistance To investigate resistance to R. solani in rice, we evaluated…
Methods and applications of in vivo CRISPR screening
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Google Scholar GarcÃa-GarcÃa,…
NGLY1 deficiency – clinical features and therapeutic strategy
Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…
Lessons learned from a muscle study in nail-patella syndrome | Orphanet Journal of Rare Diseases
Clinical findings The patient is the second child of healthy, non-consanguineous parents, who first presented at the age…
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article Google Scholar Shaw CJ,…