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Review article

First published 2019-7

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Alastair H. MacLennan, Sara Lewis, Andres Moreno-De-Luca [...]

Journal of Child Neurology

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Research article

First published 2020-2

Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability

Jelena Ruml Stojanovic, Aleksandra Miletic, Borut Peterlin [...]

Journal of Child Neurology

Free access

Research article

First published 2008-11

Refining Abacavir Hypersensitivity Diagnoses using a Structured Clinical Assessment and Genetic Testing in the Swiss HIV Cohort Study

Andri Rauch, David Nolan, Christine Thurnheer [...]

Antiviral Therapy

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Research article

First published 2012-12

RET Proto-Oncogene Genetic Screening of Families with Multiple Endocrine Neoplasia Type 2 Optimizes Diagnostic and Clinical Management in China

Xiao-Ping Qi, Xiao-Ling Chen, Ju-Ming Ma [...]

Thyroid®

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Research article

First published 2025-5

Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies

Yanshu Xie, Jingsi Luo, Jingzi Zhong [...]

Clinical Pediatrics

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Review article

First published 2003-09

Preimplantation Genetic Diagnosis by Fluorescence In Situ Hybridiation: Clinical Possibliities and Pitfalls

Tugce Pehlivan, Carmen Rubio, Lorena Rodrigo [...]

Reproductive Sciences

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Other

First published 2008-01

Childhood Absence Epilepsy With Clinically Apparent Genetic and Acquired Burdens: A Diagnostic Consideration

Hiroyuki Wakamoto

Journal of Child Neurology

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Research article

First published 1997-9

Recommendations for Genetic Counseling,Molecular Diagnosis and Clinical Management of Familial Adenomatous Polyposis

Working group of the Special Project of the Italian Association for Cancer Research (AIRC) “Inherited Colon Cancer”

Tumori Journal

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Research article

First published 2020-04-21

“Choosing Wisely”: Apolipoprotein E Genetic Testing for the Diagnosis of Alzheimer’s Disease in Dementia Clinics

Hyun Ju Yang, Na Ri Kang, Young Eun Jung [...]

Journal of Alzheimer’s Disease

Free access

Review article

First published

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

Pascale Richard, Capucine Trollet, Teresa Gidaro [...]

Journal of Neuromuscular Diseases

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