Research output per year
Research output per year
International and National Collaboration
Publications and projects within past five years.
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Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum
Alimohamed, M. Z., Mnika, K., Adadey, S. M., Barbosa-Matos, R., Avram, E., Nevondwe, P., Akurugu, W. A., Mupfururirwa, W., Cerqueira, J. X. D. M., Dore, R., Sabau, I-D., Kalantari, S., da Silva, A. R. G. F., Anzaku, A. A., Matimba, A., Chauke, P. A., Johari, M., Nembaware, V. & Mroczek, M., 26 Oct 2023, In: European Journal of Human Genetics. 3 p.Research output: Contribution to journal › Editorial › Scientific › peer-review
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Extension of the DNAJB2a isoform in a dominant neuromyopathy family
Sarparanta, J., Jonson, P. H., Reimann, J., Vihola, A., Luque, H., Penttilä, S., Johari, M., Savarese, M., Hackman, P., Kornblum, C. & Udd, B., 17 Oct 2023, In: Human Molecular Genetics. 32, 21, p. 3029-3039 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Pelin, K., Sagath, L., Lehtonen, J., Kiiski, K., Tynninen, O., Paetau, A., Johari, M., Savarese, M., Wallgren-Pettersson, C. & Lehtokari, V-L., 2023, In: Journal of Neuromuscular Diseases. 10, 5, p. 977-984 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022
Avram, E., Ding, C., Cerqueira, J. X. D. M., Johari, M., da Silva, A. R. G. F., Sabau, I-D., Noor, N., Kalantari, S., Dore, R., Barbosa-Matos, R., Mroczek, M., Tonini, F. & Committee, E. S. O. H. G-Y., Apr 2023, In: European Journal of Human Genetics. 31, 4, p. 383-386 4 p.Research output: Contribution to journal › Letter › Scientific
Open AccessFile -
Titin copy number variations associated with dominant inherited phenotypes
Perrin, A., Metay, C., Savarese, M., Ben Yaou, R., Demidov, G., Nelson, I., Sole, G., Pereon, Y., Bertini, E. S., Fattori, F., D'Amico, A., Ricci, F., Ginsberg, M., Seferian, A., Boespflug-Tanguy, O., Servais, L., Chapon, F., Lagrange, E., Gaudon, K., Bloch, A., & 13 others, 7 Nov 2023, In: Journal of Medical Genetics. 9 p.Research output: Contribution to journal › Article › Scientific › peer-review
Projects
- 1 Active
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Charecterization of genetic factors in Sporadic Inclusion Body Myositis (sIBM)
Johari, M., Hackman, P., Udd, B. & Savarese, M.
Päivikki ja Sakari Sohlbergin Säätiö
01/10/2014 → …
Project: Research project
Activities
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Doctoral Programme in Integrative Life Science (Organisational unit)
Mridul Johari (Board member)
1 Jan 2018 → 31 Dec 2019Activity: Membership types › Membership or other role in national/international committee, council, board
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TEDxHelsinkiUniversity 2018
Mridul Johari (Member of organizing committee)
Nov 2017 → May 2018Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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Helsinki Life Science Day
Mridul Johari (Member of organizing committee)
Mar 2017 → Nov 2017Activity: Participating in or organising an event types › Organisation and participation in conferences, workshops, courses, seminars
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Detection of copy number variants from targeted gene panel sequence data in muscle dystrophies
Mridul Johari (Co-supervisor)
Mar 2016 → Jun 2017Activity: Examination types › Supervision of other thesis (Master's, Licentiate)