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The Application of Clinical Genetics
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Volume 10, Issue

The Application of Clinical Genetics

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Cover image for The Application of Clinical Genetics, Volume 10, 2017

The Application of Clinical Genetics, Volume 10, Issue (2017)

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The Application of Clinical Genetics, Volume 10, Issue (2017)

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Review

Review Article

Genetics of tuberous sclerosis complex: implications for clinical practice

Carolina Caban, Nubaira Khan, Daphne M Hasbani & Peter B Crino

Pages: 1-8

Published online: 23 Dec 2022

AbstractforGenetics of tuberous sclerosis complex: implications for clinical practice | Full Text | References | PDF (379.6 KB)

206 Views
71 CrossRef citations
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Open Access

Review Article

Update on the clinical management of Wilson’s disease

Peter Hedera

Pages: 9-19

Published online: 23 Dec 2022

AbstractforUpdate on the clinical management of Wilson’s disease | Full Text | References | PDF (274.9 KB)

215 Views
53 CrossRef citations
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Open Access

Review Article

Mitochondrial diseases: advances and issues

Mauro Scarpelli, Alice Todeschini, Irene Volonghi, Alessandro Padovani & Massimiliano Filosto

Pages: 21-26

Published online: 23 Dec 2022

AbstractforMitochondrial diseases: advances and issues | Full Text | References | PDF (124.7 KB)

152 Views
16 CrossRef citations
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Open Access

Original Research

Article

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach

Parth S Shah, Nidhi D Shah, Hari Shankar P Ray, Nikunj B Khatri, Ketan K Vaghasia, Rutvik J Raval, Sandip C Shah & Mandava V Rao

Pages: 27-35

Published online: 23 Dec 2022

AbstractforMutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach | Full Text | References | PDF (531.1 KB)

263 Views
9 CrossRef citations
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Open Access

Case Series

Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children

Chanchai Traivaree, Chalinee Monsereenusorn, Arunotai Meekaewkunchorn, Premsak Laoyookhong, Saranya Suwansingh & Boonchai Boonyawat

Pages: 37-41

Published online: 23 Dec 2022

AbstractforGenotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children | Full Text | References | PDF (313.1 KB)

60 Views
10 CrossRef citations
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Open Access

Review

Review Article

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

Anibh Martin Das

Pages: 43-48

Published online: 23 Dec 2022

AbstractforClinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1) | Full Text | References | PDF (339.6 KB)

280 Views
48 CrossRef citations
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Open Access

Review Article

Treating EGFR mutation resistance in non-small cell lung cancer – role of osimertinib

Valentina Mazza & Federico Cappuzzo

Pages: 49-56

Published online: 23 Dec 2022

AbstractforTreating EGFR mutation resistance in non-small cell lung cancer – role of osimertinib | Full Text | References | PDF (474.4 KB)

86 Views
18 CrossRef citations
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Open Access

Review Article

Maple syrup urine disease: mechanisms and management

Patrick R Blackburn, Jennifer M Gass, Filippo Pinto e Vairo, Kristen M Farnham, Herjot K Atwal, Sarah Macklin, Eric W Klee & Paldeep S Atwal

Pages: 57-66

Published online: 23 Dec 2022

AbstractforMaple syrup urine disease: mechanisms and management | Full Text | References | PDF (1.5 MB)

5043 Views
115 CrossRef citations
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Open Access

Review Article

Primary ciliary dyskinesia: mechanisms and management

Nadirah Damseh, Nada Quercia, Nisreen Rumman, Sharon D Dell & Raymond H Kim

Pages: 67-74

Published online: 23 Dec 2022

AbstractforPrimary ciliary dyskinesia: mechanisms and management | Full Text | References | PDF (920.4 KB)

177 Views
43 CrossRef citations
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Open Access

Case Report

Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing

Harvy Mauricio Velasco & Jessica L Morales

Pages: 75-83

Published online: 23 Dec 2022

AbstractforNovel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing | Full Text | References | PDF (1.8 MB)

85 Views
1 CrossRef citations
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Open Access

Review

Review Article

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

Mariateresa Falco, Sonia Amabile & Fabio Acquaviva

Pages: 85-94

Published online: 23 Dec 2022

AbstractforRAI1 gene mutations: mechanisms of Smith–Magenis syndrome | Full Text | References | PDF (452.1 KB)

278 Views
33 CrossRef citations
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Open Access

Review Article

IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies

Berish Y Rubin & Sylvia L Anderson

Pages: 95-103

Published online: 23 Dec 2022

AbstractforIKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies | Full Text | References | PDF (181.7 KB)

107 Views
12 CrossRef citations
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Open Access

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Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report

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Article | Published online: 31 May 2024

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The Application of Clinical Genetics (Vol.10, Iss., 2017)

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