Marjolein Kriek
Marjolein Kriek
LUMC
Email verificata su lumc.nl
Titolo
Citata da
Citata da
Anno
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ...
Nature genetics 44 (4), 379-380, 2012
2732012
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ...
Nature genetics 46 (2), 188-193, 2014
2432014
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents
C Rosenberg, J Knijnenburg, E Bakker, AM Vianna-Morgante, W Sloos, ...
Journal of medical genetics 43 (2), 180-186, 2006
2412006
Comprehensive Detection of Genomic Duplications and Deletions in the< i> DMD</i> Gene, by Use of Multiplex Amplifiable Probe Hybridization
S White, M Kalf, Q Liu, M Villerius, D Engelsma, M Kriek, E Vollebregt, ...
The American Journal of Human Genetics 71 (2), 365-374, 2002
2152002
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
2122017
Two‐color multiplex ligation‐dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses
SJ White, GR Vink, M Kriek, W Wuyts, J Schouten, B Bakker, MH Breuning, ...
Human mutation 24 (1), 86-92, 2004
1752004
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
SAJL Oberstein, M Kriek, SJ White, ME Kalf, K Szuhai, JT den Dunnen, ...
The American Journal of Human Genetics 79 (3), 562-566, 2006
1742006
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Y Sun, B Bak, N Schoenmakers, ASP Van Trotsenburg, W Oostdijk, ...
Nature genetics 44 (12), 1375, 2012
1502012
Decreased mortality of ischaemic heart disease among carriers of haemophilia
A Šrmek, M Kriek, FR Rosendaal
The Lancet 362 (9381), 351-354, 2003
1452003
C offin–S iris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients
GWE Santen, E Aten, AT Vulto‐van Silfhout, C Pottinger, BWM van Bon, ...
Human mutation 34 (11), 1519-1528, 2013
1272013
Implementing pharmacogenomics in Europe: design and implementation strategy of the ubiquitous pharmacogenomics consortium
CH van der Wouden, A Cambon‐Thomsen, E Cecchin, KC Cheung, ...
Clinical Pharmacology & Therapeutics 101 (3), 341-358, 2017
1132017
Next‐generation diagnostics: gene panel, exome, or whole genome?
Y Sun, CAL Ruivenkamp, MJV Hoffer, T Vrijenhoek, M Kriek, ...
Human mutation 36 (6), 648-655, 2015
1092015
Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy
ML van den Boogaard, RJLF Lemmers, J Balog, M Wohlgemuth, ...
The American Journal of Human Genetics 98 (5), 1020-1029, 2016
932016
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Bna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162…, 2013
872013
SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability
GWE Santen, M Kriek, H van Attikum
Epigenetics 7 (11), 1219-1224, 2012
742012
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and…
M Kriek, SJ White, K Szuhai, J Knijnenburg, GJB van Ommen, ...
European journal of human genetics 14 (2), 180-189, 2006
712006
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
T Vrijenhoek, K Kraaijeveld, M Elferink, J De Ligt, E Kranendonk, ...
European Journal of Human Genetics 23 (9), 1142-1150, 2015
672015
Genomic imbalances in mental retardation
M Kriek, SJ White, MC Bouma, HG Dauwerse, KBM Hansson, JV Nijhuis, ...
Journal of medical genetics 41 (4), 249-255, 2004
582004
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid…
Y Sun, R Almomani, GJ Breedveld, GWE Santen, E Aten, DJ Lefeber, ...
Human Mutation 34 (5), 706-713, 2013
532013
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations
CP Kratz, G Zampino, M Kriek, SG Kant, C Leoni, F Pantaleoni, ...
American Journal of Medical Genetics Part A 149 (5), 1036-1040, 2009
512009
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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