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Bliek, Jet
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1

Should testing for mosaic genome-wide paternal uniparental ..:

Maas, Saskia M. ; Krzyzewska, Izabela M. ; Lombardi, Maria P. R....
European Journal of Human Genetics.  31 (2023)  6 - p. 615-616 , 2023
Link: https://doi.org/10.1038/..
 
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2

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Bliek, Jet...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

Sex‐specific newborn screening for X‐linked adrenoleukodyst..:

Albersen, Monique ; van der Beek, Samantha L. ; Dijkstra, Inge M. E....
Journal of Inherited Metabolic Disease.  46 (2022)  1 - p. 116-128 , 2022
Link: https://doi.org/10.1002/..
 
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4

First step towards a consensus strategy for multi-locus dia..:

Mackay, Deborah ; Bliek, Jet ; Kagami, Masayo...
Clinical Epigenetics.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

Corrigendum: Adrenoleukodystrophy Newborn Screening in the ..:

Barendsen, Rinse W. ; Dijkstra, Inge M. E. ; Visser, Wouter F....
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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6

Adrenoleukodystrophy Newborn Screening in the Netherlands (..:

Barendsen, Rinse W. ; Dijkstra, Inge M. E. ; Visser, Wouter F....
Frontiers in Cell and Developmental Biology.  8 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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7

Transcription alterations of KCNQ1 associated with imprinte..:

Valente, Federica Maria ; Sparago, Angela ; Freschi, Andrea...
Genetics in Medicine.  21 (2019)  8 - p. 1808-1820 , 2019
Link: https://doi.org/10.1038/..
 
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8

Discrepant molecular and clinical diagnoses in Beckwith-Wie..:

Mackay, Deborah J.G. ; Bliek, Jet ; Lombardi, Maria Paola...
Genetics Research.  101 (2019)  - p. , 2019
Link: https://doi.org/10.1017/..
 
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9

Multiple tumors due to mosaic genome‐wide paternal uniparen..:

Postema, Floor A.M. ; Bliek, Jet ; van Noesel, Carel J.M....
Pediatric Blood & Cancer.  66 (2019)  6 - p. , 2019
Link: https://doi.org/10.1002/..
 
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10

Clinical and molecular diagnosis, screening and management ..:

Brioude, Frédéric ; Kalish, Jennifer M. ; Mussa, Alessandro...
Nature Reviews Endocrinology.  14 (2018)  4 - p. 229-249 , 2018
Link: https://doi.org/10.1038/..
 
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11

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann ..:

Brioude, Frédéric ; Hennekam, Raoul ; Bliek, Jet...
European Journal of Human Genetics.  26 (2018)  4 - p. 471-472 , 2018
Link: https://doi.org/10.1038/..
 
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12

Phenotype, cancer risk, and surveillance in Beckwith–Wiedem..:

Maas, Saskia M. ; Vansenne, Fleur ; Kadouch, Daniel J. M....
American Journal of Medical Genetics Part A.  170 (2016)  9 - p. 2248-2260 , 2016
Link: https://doi.org/10.1002/..
 
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13

EMQN best practice guidelines for the molecular genetic tes..:

Eggermann, Katja ; Bliek, Jet ; Brioude, Frédéric...
European Journal of Human Genetics.  24 (2016)  10 - p. 1377-1387 , 2016
Link: https://doi.org/10.1038/..
 
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14

Diagnosis and management of Silver–Russell syndrome: first ..:

Wakeling, Emma L. ; Brioude, Frédéric ; Lokulo-Sodipe, Oluwakemi...
Nature Reviews Endocrinology.  13 (2016)  2 - p. 105-124 , 2016
Link: https://doi.org/10.1038/..
 
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15

Methylation analysis in tongue tissue of BWS patients ident..:

Alders, Mariëlle ; Maas, Saskia M. ; Kadouch, Daniël J.M....
European Journal of Medical Genetics.  57 (2014)  6 - p. 293-297 , 2014
Link: https://doi.org/10.1016/..
 
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