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Browsing by Author "Willemsen, Michaël Albertus Adrianus Petrus"
Now showing items 1-50 of 218
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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy ; ; ; Trimouille, A.; Lasseaux, E.; Naudion, S.; Lacombe, D.; Piton, A.; Vincent-Delorme, C.; Zweier, C.; et al.2020, Article / Letter to editor (Genetics in Medicine, vol. 22, iss. 4, (2020), pp. 797-802)
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy Hengel, H.; Bosso-Lefevre, C.; Grady, G.; Szenker-Ravi, E.; Li, H.; Pierce, S.; Lebigot, E.; Tan, T.T.; Eio, M.Y.; Narayanan, G.; et al.2020, Article / Letter to editor (Nature Communications, vol. 11, iss. 1, (2020), article 595)
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Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity Egmond, M.E. van; Contarino, M.F.; Lugtenberg, C.H.A.; Peall, K.J.; Brouwer, O.F.; Fung, V.S.C.; Roze, E.; Stewart, R.E.; ; Wolf, N.I.; et al.2019, Article / Letter to editor (Movement Disorders, vol. 34, iss. 3, (2019), pp. 317-320)
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De novo SPAST mutations may cause a complex SPG4 phenotype ; ; Pol, L.A. van de; Wolf, N.I.; Brilstra, E.H.; Frints, S.G.; ; Misra-Isrie, M.; Pennings, M.; Verschuuren-Bemelmans, C.C.; et al.2019, Article / Letter to editor (Brain, vol. 142, iss. 7, (2019), pp. e31)
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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy ; ; ; ; Hermans, E.; Kragt, E.; Tasca, G.; ; Pennings, M.; ; et al.2019, Article / Letter to editor (Clinical Chemistry, vol. 65, iss. 10, (2019), pp. 1295-1306)
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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy ; Ramos, R.J.; Wen, X.Y.; Tarailo-Graovac, M.; Gleeson, Joseph G.; Skrypnyk, C.; ; ; ; ; et al.2019, Article / Letter to editor (American Journal of Human Genetics, vol. 105, iss. 3, (2019), pp. 534-548)
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Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia Schon, Katherine; ; Oscroft, Nicholas; Baxendale, Helen; Scoffings, Daniel; Ray, Julian; ; ; ; Taylor, A.M.; et al.2019, Article / Letter to editor (Annals of Neurology, vol. 85, iss. 2, (2019), pp. 170-180)
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Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study Mol, C.L. de; Wong, Y.Y.M.; Pelt, E.D. van; Ketelslegers, I.A.; Bakker, D.P.; Boon, M.; Engelen, M.; ; ; Hintzen, R.Q.; et al.2018, Article / Letter to editor (Journal of Neurology, vol. 265, iss. 6, (2018), pp. 1310-1319)
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency Wassenberg, T.; Molero-Luis, M.; Jeltsch, K.; Hoffmann, G.F.; Assmann, B.; Blau, N.; Garcia-Cazorla, A.; Artuch, R.; Pons, R.; Pearson, T.S.; et al.2017, Article / Letter to editor (Orphanet Journal of Rare Diseases, vol. 12, iss. 1, (2017), pp. 12)
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A post hoc study on gene panel analysis for the diagnosis of dystonia Egmond, M.E. van; Lugtenberg, C.H.A.; Brouwer, O.F.; Contarino, M.F.; Fung, V.S.C.; Heiner-Fokkema, M.R.; Hilten, J.J. van; Hout, A.H. van der; Peall, K.J.; Sinke, R.J.; et al.2017, Article / Letter to editor (Movement Disorders, vol. 32, iss. 4, (2017), pp. 569-575)
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia Meyer, E.; Carss, K.J.; Rankin, J.; Nichols, J.M.; Grozeva, D.; Joseph, A.P.; Mencacci, N.E.; Papandreou, A.; Ng, J.; Barral, S.; et al.2017, Article / Letter to editor (Nature Genetics, vol. 49, iss. 2, (2017), pp. 223-237)
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B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies Maroofian, R.; ; Jae, L.T.; Zhianabed, N.; ; Wissink, W.M.; ; ; Mehrjardi, M.Y.V.; Ashrafi, M.R.; et al.2017, Article / Letter to editor (Genome Medicine, vol. 9, iss. 1, (2017), article 118)
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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology ; Nimwegen, K.J.M. van; ; ; ; ; ; ; Krabbenborg, L.; ; et al.2017, Article / Letter to editor (Genetics in Medicine, vol. 19, iss. 9, (2017), pp. 1055-1063)
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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome ; ; ; ; Geuer, S.; ; Klepper, J.; ; ; Pennings, M.; et al.2017, Article / Letter to editor (European Journal of Human Genetics, vol. 25, iss. 6, (2017), pp. 771-774)
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Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis ; ; Kusters-vandevelde, H.V.; ; Djafarihamedani, M.; ; ; ; ; ; et al.2017, Article / Letter to editor (Acta Neuropathologica, vol. 133, iss. 2, (2017), pp. 333-335)
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Ataxia-telangiectasia: Immunodeficiency and survival ; ; ; Haraldsson, A.; Driel, N.T.M. van; Etzioni, A.; ; ; Morio, T.; Rawat, A.; et al.2017, Article / Letter to editor (Clinical Immunology, vol. 178, (2017), pp. 45-55)
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Now showing items 1-50 of 218
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