Global Medical Genetics

Issue 01 · March 2022

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Contributing Reviewers
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Contributing Reviewers in 2021 Open Access

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Editorial
001
Diao, Fei-Yu: Alpelisib: A Well-Tolerated Treatment Option for Patients with HR-Positive, HER2-Negative, PIK3CA-Mutated Advanced Breast Cancer Open Access

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Review Article
004
Ozturkler, Ziya; Kalkan, Rasime: A New Perspective of COVID-19 Infection: An Epigenetics Point of View Open Access

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007
Aykac, Asli; Kalkan, Rasime: Epigenetic Approach to PTSD: In the Aspects of Rat Models Open Access

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014
Kanduc, Darja: From Genetics to Epigenetics: Top 4 Aspects for Improved SARS-CoV-2 Vaccine Designs as Paradigmatic Examples Open Access

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Original Article
018
Hegde, Rajat; Hegde, Smita; Kulkarni, Suyamindra S.; Pandurangi, Aditya; Gai, Pramod B.; Das, Kusal K.: Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India Open Access

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023
Kalayci Yigin, Aysel; Duz, Mehmet Bugrahan; Seven, Mehmet: Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation Open Access

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029
Atli, Emine Ikbal; Atli, Engin; Yalcintepe, Sinem; Demir, Selma; Kalkan, Rasime; Akurut, Cisem; Ozen, Yasemin; Gurkan, Hakan: Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period Open Access

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034
Ganaraja, Valakunja H.; Polavarapu, Kiran; Bardhan, Mainak; Preethish-Kumar, Veeramani; Leena, Shingavi; Anjanappa, Ram M.; Vengalil, Seena; Nashi, Saraswati; Arunachal, Gautham; Gunasekaran, Swetha; Mohan, Dhaarini; Raju, Sanita; Unnikrishnan, Gopikrishnan; Huddar, Akshata; Ravi-Kiran, Valasani; Thomas, Priya T.; Nalini, Atchayaram: Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India Open Access

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Supplementary Material

Supplementary Material
042
Atli, Emine Ikbal; Atli, Engin; Yalcintepe, Sinem; Demir, Selma; Mail, Cisem; Eker, Damla; Ozen, Yasemin; Gurkan, Hakan: Clinical Features of Aberrations Chromosome 22q: A Pilot Study Open Access

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Case Report
051
Pomarino, David; Thren, Johanna Ronja; Thren, Anneke; Rostasy, Kevin; Schoenfeldt, Jan: Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene Open Access

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Letter to the Editor
054
Poon, Kok-Siong; Tan, Karen Mei-Ling: Variant Curation is Crucial to Claim Digenic Inheritance in Juvenile Open Angle Glaucoma Open Access

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