Zobrazeno 1 - 3
of 3
pro vyhledávání: '"N. M. Mulder-den Hartog"'
Autor:
Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T. Hendrickx, Suzanne C. E. H. Sallevelt, Ralph W. H. Gottschalk, Chantal M. Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst-Hofstee, Marianne de Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, Irenaeus F. M. de Coo, Debby M. E. I. Hellebrekers, Hubert J. M. Smeets
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap wi
Externí odkaz:
https://doaj.org/article/47cd824c9ce44759b3f813412a4b8eb1
Autor:
I.F.M. de Coo, N. M. Mulder-den Hartog, Debby M.E.I. Hellebrekers, Hubert J.M. Smeets, Mike Gerards, Minh Nhut Nguyen, Iris B W Boesten
Publikováno v:
Clinical Genetics. 91:121-125
The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ae9a011db8d4b5388824c6fba21a445
https://doi.org/10.1111/cge.12774
https://doi.org/10.1111/cge.12774
Autor:
M, Nguyen, I, Boesten, D M E I, Hellebrekers, N M, Mulder-den Hartog, I F M, de Coo, H J M, Smeets, M, Gerards
Publikováno v:
Clinical genetics. 91(1)
The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some cases, optic neuropathies are associated with cerebellar atrophy which mainly affects the vermis. Here, we describe a Mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e127c6feac9a16481e830afbfd4e811
https://pubmed.ncbi.nlm.nih.gov/26951855
https://pubmed.ncbi.nlm.nih.gov/26951855