Research output per year
Research output per year
Research output
- 11 results
Search results
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2023
Chung-Jansen Syndrome – a new overweight and developmental delay syndrome caused by haploinsufficiency of PHIP – a case report
Sørensen, A., Bjerregaard, L. L. & Frederiksen, A. L., Jun 2023.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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Prolonged gastrointestinal transit times in mitochondrial disease – a case control study
Nielsen, S. R., Wegeberg, A-M. L., Liao, D., Drewes, A. M., Pedersen, I. S., Frederiksen, A. L. & Brock, C., Jun 2023.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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2022
Sporadic late onset nemaline myopathy (SLONM) with dermatological manifestation a challenge for diagnosis and treatment
Nandy, A., Tankisi, H., Dalager, M. G., Hvidbjerg, M. S., Schrøder, H. D. & Obál, I., Jun 2022.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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2017
Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G
Hestoy, D. H., Hougaard, D. D., Højland, A. T., Gaihede, M. & Petersen, M. B., May 2017.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
File49 Downloads (Pure) -
Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic paren
Larsen, L. H. G., Hao, Q., Kako, N., Olofsson, K., Miranda, M., Kinali, M., Borggräfe, I., Svaneby, D., Nielsen, J. E. K., Lavard, L., Uldall, P., Talvik, T., Talvik, I., Fusco, C., Spagnoli, C., Frangu, M., Born, P. A., Striano, P., Pal, D., Oates, S., & 15 others, 2017. 1 p.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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2015
Pontine Tegmental Cap Dysplasia: A rare hindbrain malformation and the search of the genetic etiology
Herlin, M., Varvagiannis, K., Gammelgaard, L., Gregersen, P. A., Makrythanasis, P., Antonarakis, S. E. & Petersen, M. B., 2015.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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Pontine Tegmental Cap Dysplasia: A rare case in pediatric neurology and the search of the genetic etiology
Herlin, M., Gammelgaard, L., Varvagiannis, K., Gregersen, P. A., Makrythanasis, P., Antonarakis, S. E. & Petersen, M. B., 2015.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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2013
Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing.
Herlin, M., Jonstrup, S. P., Højland, A. T., Pedersen, I. S., Madsen, P. H., Ernst, A., Okkels, H., Le, V., Krarup, H. & Petersen, M. B., Oct 2013. 1 p.Research output: Contribution to conference without publisher/journal › Poster › Research
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Mother-to-offspring Inheritance of MLH1 Promotor Hypermethylation
Højland, A. T., Okkels, H., Madsen, P. H., Jensen, T. D. & Petersen, M. B., 8 Jun 2013.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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Mutation analysis with Next Generation Sequencing performed to evaluate the cause of Centronuclear Myopathy in two foetuses of consanguineous parents from Sudan
Dohrn, N., Petersen, A., Skovbo, P., Pedersen, I. S., Ernst, A., Krarup, H. & Petersen, M. B., 2013.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review
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Whole Exome Sequencing on two fetuses with Centronuclear Myopathy of consanguineous parents from Sudan shows two possible candidates.
Dohrn, N., Le, V., Petersen, A., Skovbo, P., Pedersen, I. S., Ernst, A., Krarup, H. & Petersen, M. B., Oct 2013. 1 p.Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review