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1 Ergebnisse
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Congenital myasthenic syndrome with mild intellectual disab..:
Balaraju, Sunitha
;
Töpf, Ana
;
McMacken, Grace
...
European Journal of Human Genetics. 28 (2019) 3 - p. 373-377 , 2019
Link:
https://doi.org/10.1038/s41431-019-0506-2
RT Journal T1
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-019-0506-2&Exemplar=1&LAN=DE A1 Balaraju, Sunitha A1 Töpf, Ana A1 McMacken, Grace A1 Kumar, Veeramani Preethish A1 Pechmann, Astrid A1 Roper, Helen A1 Vengalil, Seena A1 Polavarapu, Kiran A1 Nashi, Saraswati A1 Mahajan, Niranjan Prakash A1 Barbosa, Ines A. A1 Deshpande, Charu A1 Taylor, Robert W. A1 Cossins, Judith A1 Beeson, David A1 Laurie, Steven A1 Kirschner, Janbernd A1 Horvath, Rita A1 McFarland, Robert A1 Nalini, Atchayaram A1 Lochmüller, Hanns PB Springer Science and Business Media LLC YR 2019 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 28 IS 3 SP 373 OP 377 LK http://dx.doi.org/https://doi.org/10.1038/s41431-019-0506-2 DO https://doi.org/10.1038/s41431-019-0506-2 SF ELIB - SuUB Bremen
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