Author Lammens, Martin
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2013 | Journal Article
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Ravenscroft, G.; Miyatake, S.; Lehtokari, V.-L.; Todd, E. J.; Vomauen, P.; Yau, K. S. & Hayashi, Y. K. et al. (2013)
The American Journal of Human Genetics, 93(1) pp. 6-18. DOI: https://doi.org/10.1016/j.ajhg.2013.05.004
Details DOI PMID PMC WoS
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2014 | Journal Article |
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Gardeitchik, T.; Mohamed, M.; Fischer, B.; Lammens, M.; Lefeber, D.; Lace, B. & Parker, M. et al. (2014)
European Journal of Human Genetics, 22(7) pp. 888-895. DOI: https://doi.org/10.1038/ejhg.2013.154
Details DOI PMID PMC
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2018 | Journal Article |
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
Bonnin, E.; Cabochette, P.; Filosa, A.; Jühlen, R.; Komatsuzaki, S.; Hezwani, M. & Dickmanns, A. et al. (2018)
PLOS Genetics, 14(12) art. e1007845. DOI: https://doi.org/10.1371/journal.pgen.1007845
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