Results 161 to 170 of about 271,662 (318)

Impact of Time Since Diagnosis and Age on Fracture Risk in Young Adults With Type 1 and Type 2 Diabetes

The Kaohsiung Journal of Medical Sciences, EarlyView.
Tien‐Ching Lee, Sung‐Yen Lin, Chung‐Hwan Chen, Pei‐Shan Ho   +3 more
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Platelet count and breast cancer: Insights from Mendelian randomization. [PDF]

Medicine (Baltimore)
Qu M, Yang J.
europepmc   +1 more source

Causal impact of obesity class stratification and endometrial cancer subtypes: an integrated Mendelian randomization and Global Burden of Disease Study 2021 analysis

Yan Tong, Tinghong Zhou, Yao Kong, Zhaoxia Liu, Zhiqing Lai   +4 more
openalex   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

The present state of knowledge of colour-heredity in mice and rats [PDF]

, 2010
Bateson, William
core  

Mendelian gene

Citation: 'Mendelian gene' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10929 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial
openaire   +1 more source

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Association of Venous Thromboembolism Risk with Atopic Dermatitis and Janus Kinase Inhibitors Treatment: A Mendelian Randomization Study. [PDF]

Clin Appl Thromb Hemost
Chen Z, Wang S, Wang Y.
europepmc   +1 more source

Genetics in the United States and Great Britain 1890-1930 : queries and speculations [PDF]

, 1978
Kevles, Daniel J.
core