Research ExplorerJournalsMOL GENET GENOM MED

MOL GENET GENOM MED - Molecular Genetics & Genomic Medicine

Bibliographical data

ISSNs2324-9269
Electronic ISSN 2324-9269

Publications

TH17/IL23 cytokine gene polymorphisms in bullous pemphigoid
Tabatabaei-Panah, P-S., Moravvej, H., Aghaei, S., Akbari, M., Rajabi, S., Kia, A., Ebrahimi, E., Sadaf, Z., Atoon, A., Behravesh, N., Ludwig, R. J. & Akbarzadeh, R., 12.2020, In: MOL GENET GENOM MED. 8, 12, e1519.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

The CLN3 gene and protein: What we know
Mirza, M., Vainshtein, A., DiRonza, A., Chandrachud, U., Haslett, L. J., Palmieri, M., Storch, S., Groh, J., Dobzinski, N., Napolitano, G., Schmidtke, C. & Kerkovich, D. M., 12.2019, In: MOL GENET GENOM MED. 7, 12, p. e859

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Jahic, A., Günther, S., Muschol, N., Fossøy Stadheim, B., Braaten, Ø., Kjensli Hyldebrandt, H., Kuiper, G-A., Tylee, K., Wijburg, F. A. & Beetz, C., 09.2019, In: MOL GENET GENOM MED. 7, 9, p. e00615

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures
Sargolzaeiaval, F., Zhang, J., Schleit, J., Lessel, D., Kubisch, C., Precioso, D. R., Sillence, D., Hisama, F. M., Dorschner, M., Martin, G. M. & Oshima, J., 11.2018, In: MOL GENET GENOM MED. 6, 6, p. 1148-1156 9 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry
Saha, B., Lessel, D., Nampoothiri, S., Rao, A. S., Hisama, F. M., Peter, D., Bennett, C., Nürnberg, G., Nürnberg, P., Martin, G. M., Kubisch, C. & Oshima, J., 01.05.2013, In: MOL GENET GENOM MED. 1, 1, p. 7-14 8 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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