Author

Jamala Mammadova

Ondokuz Mayıs UniversityORCID 0000-0002-8217-1684Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ali Kemal TopalogluiD· 1 shared Ayça AltıncıkiD· 1 shared Bilgin YükseliD· 1 shared Cumali Gökçe· 1 shared Fatih GürbüziD· 1 shared Fuat BuğruliD· 1 shared Gönül ÇatlıiD· 1 shared Hyun-Ju ChoiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Ali Kemal TopalogluORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintOct 12, 2022

POU6F2 mutation identified in humans with pubertal failure shifts isoform formation and alters GnRH transcript expression

Hyun-Ju Cho, Fatih Gürbüz, Maria I. Stamou…·Ali Kemal Topaloglu

The paper identifies POU6F2 mutations in IHH patients, showing isoform1 regulates GnRH expression and variants disrupt this function, contributing to pubertal failure.

DOI 10.1101/2022.10.12.511883

humanwhole-exome sequencing

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