Results 91 to 100 of about 73,831 (171)

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source

Enhancing Variant Calling in Whole Exome Sequencing (WES) Data Using Population-Matched Reference Genomes [PDF]

Shuming Guo, Zhuo Huang, Yanming Zhang, Yukun He, Xiangju Chen, Wenjuan Wang, L.M. Li, Yu Kang, Zhancheng Gao, Jun Yu, Zhenglin Du, Yanan Chu   +11 more
openalex   +1 more source

Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease. [PDF]

J Clin Neurol
Hong EP, Ha EJ, Youn DH, Chung Y, Kim KM, Lee SH, Cho WS, Kang HS, Jeon JP, Kim JE, First Korean Stroke Genetics Association Research (The FirstKSGAR) Study.   +10 more
europepmc   +1 more source

Additional file 5 of The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

, 2020
Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng   +4 more
openalex   +1 more source

PS1147 SPATIAL HETEROGENEITY IN CHRONIC LYMPHOCYTIC LEUKAEMIA ANALYSED BY WHOLE‐GENOME/EXOME SEQUENCING AT DIAGNOSIS

, 2019
Ferran Nadeu, Romina Royo, Francesco Maura, Kevin J. Dawson, A. Dueso, David Torrents, Marta Aymerich, Magda Pinyol, Sı́lvia Beà, Armando López‐Guillermo, Javier A. Delgado, Xosé S. Puente, Elı́as Campo   +12 more
openalex   +1 more source

Diagnostic value of exome and whole genome sequencing in craniosynostosis [PDF]

, 2016
Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan, Julie Phipps, Aimée L Fenwick, David Johnson, Steven A. Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C. Taylor, Jacqueline A.C. Goos, Sigrid M. A. Swagemakers, Irene M. J. Mathijssen, Peter J. van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A. Hurst, Jenny E.V. Morton, Elizabeth Sweeney, Astrid Weber, Louise C. Wilson, Andrew O.M. Wilkie   +26 more
openalex   +1 more source

Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees. [PDF]

Hum Genomics
Xu YF, Zhang J, Wei TY, Zhang ML, Liu JE, Yang K, Tian YP, Hu HY.   +7 more
europepmc   +1 more source

Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review. [PDF]

J Infect Dis
Gélin M, Launay É, Vince N.
europepmc   +1 more source

Distribution of Sequencing Coverage Gaps in Exomes and Genomes: Potential Implications for Diagnostic Accuracy in Neurodevelopmental Disorder Genes. [PDF]

Genes (Basel)
Iovino E, De Masi C, Ballestrazzi A, Mattiaccio A, Isidori F, Seri M, Pippucci T.   +6 more
europepmc   +1 more source

Ending the Diagnostic Odyssey: Making Whole-Exome/Genome Sequencing the First-Line Test for Global Developmental Delay

Annals of Child Neurology
openaire   +2 more sources