Results 211 to 220 of about 1,555,906 (271)

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Introgressed Brassica napus × Sinapis alba enhance resistance to the crucifer flea beetle (Phyllotreta cruciferae)

Pest Management Science, EarlyView.
This study demonstrates that Brassica napus lines with Sinapis alba introgressions enhanced resistance against Phyllotreta cruciferae, resulting in reduced feeding damage and improved seedling physiological performance. The introgressed lines showed strong potential as genetic resources for developing more resilient and sustainable canola varieties ...
Aziz Ullah, Altaf Hussain, Vicky Roslinsky, Sally L. Vail, Boyd A. Mori   +4 more
wiley   +1 more source

Cutting-Edge Cardiology: Individualizing Antiplatelet Therapy for Optimal Acute Coronary Syndrome Outcomes. [PDF]

Cureus
Abounader G, Bejjani S, Chaaban SM, Dada S, Fakhoury R, Hamade M, Hobeika R, Iskandarani M, Mohammed M, Rebeiz AG, El Sayed A, Hallal M, Soueidy M.   +12 more
europepmc   +1 more source

Efficacy and Safety of Ecopipam for Tourette Syndrome: A Phase 3 Randomized Clinical Trial.

JAMA Neurol
Gilbert DL, Atkinson SD, Kim DJB, Miller MM, Rice PM, Flatt JA, Karkanias GB, Munschauer FE, Bittman RM, Wanaski SP, Cunniff TM, Tomczak KK.   +11 more
europepmc   +1 more source

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Evaluation of Tests for Gilbert's Syndrome

Journal of Internal Medicine, 1980
ABSTRACT. The effect of caloric restriction (400 kcal for 24 hours) on serum total and unconjugated bilirubin was studied in 30 subjects with Gilbert's syndrome and in 22 patients with different liver diseases. The method could not completely differentiate between Gilbert's syndrome and liver disease, but an increase in unconjugated bilirubin of 15 ...
Roger Olsson, Göran Lindstedt, G Lindstedt   +2 more
exaly   +3 more sources

Gilbert syndrome

Orvosi Hetilap, 2008
Az ismert familiáris, nem konjugált hyperbilirubinaemiák közé tartozó Gilbert-szindróma az átlagpopuláció 7–10%-át érintő benignus kórkép. Tünetei rendszerint aspecifikusak, egyedül az esetlegesen előforduló sárgaság, továbbá az enyhén emelkedett nem konjugált bilirubin szintje utal a rendellenességre.
Bernadett, Faragó, Béla, Melegh
  +5 more sources

Gilbert’s syndrome revisited

Journal of Hepatology, 2023
Gilbert's syndrome, also known as benign hyperbilirubinaemia, was described more than 100 years ago. It has usually been considered a physiological abnormality characterised by a mild elevation of the systemic level of unconjugated bilirubin, in the absence of any underlying liver or overt haemolytic disease.
Libor Vítek, Claudio Tiribelli
openaire   +2 more sources