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Pitfalls in clinical genetics
Published 2023-01-01“…In this review, we discuss the common pitfalls in clinical genetics and how doctors can avoid these pitfalls to ensure patient safety and to safeguard their practice.…”
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Clinical genetics of craniosynostosis
Published 2017“…<strong>Summary</strong> Strategies to optimise clinical genetic diagnostic pathways by combining both targeted and next-generation sequencing are discussed. …”
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Advances in clinical genetics and genomics
Published 2021-09-01Subjects: “…Clinical genetics…”
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Implementation of molecular karyotyping in clinical genetics
Published 2013-11-01Get full text
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Ethical Issues in Contemporary Clinical Genetics
Published 2018-06-01“…This article provides an overview of the salient ethical concerns pertaining to clinical genetics. The subject is approached with an emphasis on clinical practice, but consideration is also given to research. …”
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Concern for families and individuals in clinical genetics.
Published 2003“…This paper considers the ethical implications of a "familial" conception of the clinical genetics role. It argues that dogmatic adherence to either the familial or to the individualistic conception of clinical genetics has the potential to lead to significant harms and to fail to take important obligations seriously. …”
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Clinical, genetic, and experimental research of hyperphenylalaninemia
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Polymorphism in Tmem132d regulates expression and anxiety-related behavior through binding of RNA polymerase II complex
Published 2018Subjects: “…Clinical Genetics…”
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Clinical Genetics of Prolidase Deficiency: An Updated Review
Published 2020-05-01Get full text
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Clinical genetics of defects in thyroid hormone synthesis
Published 2018-12-01Get full text
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Advances in Clinical Genetics of the Ehlers-Danlos Syndromes
Published 2024-07-01Subjects: Get full text
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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis
Published 2023-07-01Get full text
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Clinical Genetic Testing in Children with Kidney Disease
Published 2021-06-01“…Here, we review the characteristics of genetic testing modalities and the implications of genetic testing in clinical genetic diagnostics.…”
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Inherited Cardiomyopathies: Genetics and Clinical Genetic Testing
Published 2017-01-01Get full text
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