This internationally recognized NJ doctor is on the frontlines battling rare diseases
A rare disease in the US is one in 1,500, or fewer than 200,000 people, and an ultra-rare disease is one in 50,000 or fewer than than 6,000 people.
Nature18d
Genetics of Phenylketonuria: Heterozygosity for phenylketonuria
The first article deals with the problem of using the response to injected phenylalanine to determine whether or not the subject is heterozygous for phenylketonuria. The second article suggests a ...
Hosted on MSN19d
This Wild Cat’s Ultra-Rare Coat Color Is Unlike Anything Seen Before
[wild cat] [rare coat color] [wildlife discovery] [genetic mutation] [wild cat sighting] [animal genetics] [u.s. wildlife ... jobs in the world, ranked 12 Breeds That Will Love You More Than ...
Medical Xpress21d
Human chromosomes evolved at hyperspeed to give us better brains, but there's a catch
The answer could lie in exceptional DNA. Scientists at UC San Francisco have found that parts of our chromosomes have evolved at breakneck speeds to give us an edge in brain development compared ...
GitHub21d
Lift3D Foundation Policy: Lifting 2D Large-Scale Pretrained Models for Robust 3D Robotic Manipulation
Simulator Benchmark (2D&3D) 📈: Code for data collection, training, and evaluation using simulators from Metaworld and RLBench. Metaworld are built for the latest version of the gynasim library. You ...
Frontiers5y
Chromosomal Heterogeneity of the G-401 Rhabdoid Tumor Cell Line: Unusual Partial 7p Trisomy
We have analyzed metaphases of the G-401 rhabdoid tumor cell line. In these cells we have observed metaphases with derivative chromosome 12 arising from partial trisomy 7p. With increasing passage ...
Frontiers6y
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population
The screened IEMs included hypermethioninemia, phenylketonuria, homocystinuria, maple syrup urine disease, tyrosinemia, citrullinemia, argininemia, very long-chain acyl-CoA dehydrogenase deficiency, ...