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Levinus Adrianus Bok
Levinus Adrianus Bok
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The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection
LS De Vries, H Gunardi, PG Barth, LA Bok, MA Verboon-Maciolek, ...
Neuropediatrics 35 (02), 113-119, 2004
1952004
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
1802017
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
TS Koemans, T Kleefstra, MC Chubak, MH Stone, MRF Reijnders, ...
PLoS genetics 13 (10), e1006864, 2017
1112017
Long‐term outcome in pyridoxine‐dependent epilepsy
LA Bok, FJ Halbertsma, S Houterman, RA Wevers, C Vreeswijk, C Jakobs, ...
Developmental Medicine & Child Neurology 54 (9), 849-854, 2012
1062012
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
CDM van Karnebeek, H Hartmann, S Jaggumantri, LA Bok, B Cheng, ...
Molecular genetics and metabolism 107 (3), 335-344, 2012
1042012
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
MD Fountain, E Aten, MT Cho, J Juusola, MA Walkiewicz, JW Ray, F Xia, ...
Genetics in Medicine 19 (1), 45-52, 2017
982017
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ...
Genetics in Medicine 21 (6), 1295-1307, 2019
822019
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder
A Chaudhry, A Noor, B Degagne, K Baker, LA Bok, AF Brady, D Chitayat, ...
Clinical genetics 88 (3), 224-233, 2015
782015
Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
C Celen, JC Chuang, X Luo, N Nijem, AK Walker, F Chen, S Zhang, ...
Elife 6, e25730, 2017
762017
An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)
GS Salomons, LA Bok, EA Struys, LL Pope, PS Darmin, PB Mills, ...
Annals of neurology 62 (4), 414-418, 2007
672007
Epidemiology of pyridoxine dependent seizures in the Netherlands
JV Been, LA Bok, P Andriessen, WO Renier
Archives of disease in childhood 90 (12), 1293-1296, 2005
672005
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
M Klaassens, D Morrogh, EM Rosser, F Jaffer, M Vreeburg, LA Bok, ...
European Journal of Human Genetics 23 (5), 610-615, 2015
652015
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
LA Bok, E Struys, MAAP Willemsen, JV Been, C Jakobs
Archives of disease in childhood 92 (8), 687-689, 2007
582007
The EEG response to pyridoxine‐IV neither identifies nor excludes pyridoxine‐dependent epilepsy
LA Bok, NM Maurits, MA Willemsen, C Jakobs, LK Teune, BT Poll‐The, ...
Epilepsia 51 (12), 2406-2411, 2010
552010
Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations
CDM van Karnebeek, S Stockler-Ipsiroglu, S Jaggumantri, B Assmann, ...
JIMD Reports, Volume 15, 47-57, 2015
542015
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ...
Journal of Medical Genetics 55 (2), 104-113, 2018
492018
Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila
J Straub, EDH Konrad, J Grüner, A Toutain, LA Bok, MT Cho, ...
The American Journal of Human Genetics 102 (1), 44-57, 2018
452018
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
CR Coughlin, LA Tseng, JE Abdenur, C Ashmore, F Boemer, LA Bok, ...
Journal of inherited metabolic disease 44 (1), 178-192, 2021
412021
The measurement of urinary Δ1‐piperideine‐6‐carboxylate, the alter ego of α‐aminoadipic semialdehyde, in Antiquitin deficiency
EA Struys, LA Bok, D Emal, S Houterman, MA Willemsen, C Jakobs
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2012
412012
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
LA Bok, JV Been, EA Struys, C Jakobs, EAM Rijper, MA Willemsen
European journal of pediatrics 169, 297-303, 2010
412010
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Artikelen 1–20