research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
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research PRACTICAL PEARL
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research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Determination of cantharidin,nitrogen mustard and minoxidil in nurturing hair products by liquid chromatography-tandem mass spectrometry
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
![The Synthesis of (−)-4-Methyl-8-Chloro-Trans-1,2,3,4,4a,5,6,10b-Octahydrobenzo-[f]-Quinolin-3-One-[3-14C] (LY300502-14C) via a Circuitous Route](/images/research/73bab8dc-bdf0-45e3-8ef7-73d0d4b93cb1/small/21074.jpg)
research The synthesis of (−)-4-methyl-8-chloro-trans-1,2,3,4,4a,5,6,10b-octahydrobenzo-[f]-quinolin-3-one-[3-14C] (LY300502-14C]) via a circuitous route
Scientists made a carbon-14 labeled version of a drug with a 48% yield and over 99% purity.
research Cloning and sequence analysis of KAP 6.1 gene in Xinjiang fine-wool sheep
Researchers cloned a gene from Xinjiang fine-wool sheep, finding it very similar to other sheep and somewhat similar to goats, humans, and rabbits.
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research Determination of Secondary Follicle Characteristics, Density, Activity, and Hoxc13 Expression Pattern of Hexi Cashmere Goats Breed
Hexi cashmere goats' hair growth varies by stage, with Hoxc13 linked to hair activity.
research Regulation of feather follicle development and Msx2 gene SNP degradation in Hungarian white goose
The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Solid-Phase Microextraction and Related Techniques in Bioanalysis
research N‑K GM SERIES: THE COMPLETE GEOMETRIC MEDICINE LIBRARY — From Discovery to Deployment: SELECTIVE‑ANTI‑BACTERIAL‑GM2, SELECTIVE‑ANTI‑PATHOGENIC‑FUNGI‑GM2, and the CMC Pocket Delivery System A Comprehensive Framework for Precision Antimicrobials — 1,000,000,000:1 Selectivity, Zero Ecological Harm, Free for Humanity
The N-K GM Series offers highly selective, eco-friendly medicines targeting harmful microbes, free for personal use.