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Number of items: 3.

Journal Article

Karakaya, Mert, Paketci, Cem ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am. J. Med. Genet. A, 179 (8). S. 1580 - 1585. HOBOKEN: WILEY. ISSN 1552-4833

Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum. Mutat., 42 (4). S. 460 - 473. HOBOKEN: WILEY. ISSN 1098-1004

Keller, Natalie, Paketci, Cem, Edem, Pinar, Thiele, Holger, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy. Eur. J. Med. Genet., 64 (2). AMSTERDAM: ELSEVIER. ISSN 1878-0849

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