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Articles (10)

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1-10 of 10 results for prenatal whole-genome sequencing

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Select article: Genetics and global healthcare

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Research article

First published 2013-3

Genetics and global healthcare

AH Bittles

Journal of the Royal College of Physicians of Edinburgh

Select article: Empowering women's choice in the new era of non-invasive prenatal testing methods: Opting for routine perinatal care information over routine screening

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Research article

First published 2026

Empowering women's choice in the new era of non-invasive prenatal testing methods: Opting for routine perinatal care information over routine screening

Panagiota Nakou

Clinical Ethics

Select article: Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings

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Research article

First published 2017-9

Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings

Hannah Song, Sina Haeri, Hannes Vogel [...]

Journal of Child Neurology

Select article: Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

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Research article

First published 2023-5

Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study

Alison M Elliott, Nick Dragojlovic, Teresa Campbell [...]

Journal of Telemedicine and Telecare

Select article: Whole-genome sequencing analysis of Y chromosome microdeletion: a case report

Open access

Case report

First published 2020-12

Whole-genome sequencing analysis of Y chromosome microdeletion: a case report

Zhixiang Gao, Feng Yuan, Qiaoqiao Li [...]

Journal of International Medical Research

Select article: Approach to diagnosis of metabolic diseases

Open access

Research article

First published 2016-8-26

Approach to diagnosis of metabolic diseases

Enid Gilbert-Barness, Philip M. Farrell

Translational Science of Rare Diseases

Select article: Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature

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Research article

First published 2026-2

Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature

Warren Stopak, Kelly A Keener, Vinod K Misra

Journal of Child Neurology

Select article: Renal Pathology of Ciliopathies

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Research article

First published 2024-9

Renal Pathology of Ciliopathies

Thivya Sekar, Neil J. Sebire

Pediatric and Developmental Pathology

Select article: Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models

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Research article

First published 2018-09

Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models

Nicholas B. Larson, Chen Wang, Jie Na [...]

Journal of Computational Biology

Select article: Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery

Open access

Article commentary

First published 2020-11

Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery

Heather C. Mefford

Epilepsy Currents

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