| Mutations in antiquitin in individuals with pyridoxine-dependent seizures PB Mills, E Struys, C Jakobs, B Plecko, P Baxter, M Baumgartner, ... Nature medicine 12 (3), 307-309, 2006 | 579 | 2006 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 484 | 2007 |
| Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ... Brain 133 (3), 655-670, 2010 | 443 | 2010 |
| Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study F Amant, K Van Calsteren, MJ Halaska, MM Gziri, W Hui, L Lagae, ... The lancet oncology 13 (3), 256-264, 2012 | 367 | 2012 |
| Development and developmental disorders of the human cerebellum HJ ten Donkelaar, WFA den Dunnen, M Lammens, P Wesseling, ... Clinical neuroembryology: development and developmental disorders of the …, 2023 | 315 | 2023 |
| A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology LELM Vissers, KJ Van Nimwegen, JH Schieving, EJ Kamsteeg, ... Genetics in Medicine 19 (9), 1055-1063, 2017 | 280 | 2017 |
| tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia BS Budde, Y Namavar, PG Barth, BT Poll-The, G Nürnberg, C Becker, ... Nature genetics 40 (9), 1113-1118, 2008 | 263 | 2008 |
| Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) L van den Heuvel, K Assink, M Willemsen, L Monnens Human genetics 111, 544-547, 2002 | 248 | 2002 |
| Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010 | 241 | 2010 |
| Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency L Brun, LH Ngu, WT Keng, GS Ch'Ng, YS Choy, WL Hwu, WT Lee, ... Neurology 75 (1), 64-71, 2010 | 234 | 2010 |
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ... Nature genetics 44 (5), 581-585, 2012 | 232 | 2012 |
| Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ... Orphanet journal of rare diseases 12, 1-21, 2017 | 220 | 2017 |
| Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... Nature genetics 49 (2), 223-237, 2017 | 220 | 2017 |
| Clinical practice: swallowing problems in cerebral palsy CE Erasmus, K van Hulst, JJ Rotteveel, MAAP Willemsen, PH Jongerius European journal of pediatrics 171, 409-414, 2012 | 214 | 2012 |
| Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations AL Gloyn, K Noordam, MAAP Willemsen, S Ellard, WWK Lam, ... diabetes 52 (9), 2433-2440, 2003 | 208 | 2003 |
| Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group J Klepper, C Akman, M Armeno, S Auvin, M Cervenka, HJ Cross, ... Epilepsia open 5 (3), 354-365, 2020 | 200 | 2020 |
| Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline NJH van Os, N Roeleveld, CMR Weemaes, MCJ Jongmans, ... Clinical genetics 90 (2), 105-117, 2016 | 197 | 2016 |
| Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects MH Willemsen, LEL Vissers, MAAP Willemsen, BWM van Bon, T Kroes, ... Journal of medical genetics 49 (3), 179-183, 2012 | 197 | 2012 |
| eIF2B-related disorders: antenatal onset and involvement of multiple organs MS Van Der Knaap, CGM Van Berkel, J Herms, R Van Coster, ... The American Journal of Human Genetics 73 (5), 1199-1207, 2003 | 189 | 2003 |
| Clinical spectrum of ataxia-telangiectasia in adulthood MMM Verhagen, WF Abdo, M Willemsen, FBL Hogervorst, D Smeets, ... Neurology 73 (6), 430-437, 2009 | 186 | 2009 |
Ron WeversProfessor in Clinical Chemistry in Nijmegen在 radboudumc.nl 的电子邮件经过验证
