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Douben, Hannie
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1

Biallelic NDC1 variants that interfere with ALADIN binding ..:

Smits, Daphne J. ; Dekker, Jordy ; Douben, Hannie...
Human Genetics and Genomics Advances.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Functional Assays Combined with Pre-mRNA-Splicing Analysis ..:

Douben, Hannie ; Hoogeveen-Westerveld, Marianne ; Nellist, Mark...
Human Mutation.  2023 (2023)  - p. 1-14 , 2023
Link: https://doi.org/10.1155/..
 
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3

Heritability and De Novo Mutations in Oesophageal Atresia a..:

Brosens, Erwin ; Brouwer, Rutger W. W. ; Douben, Hannie...
Genes.  12 (2021)  10 - p. 1595 , 2021
Link: https://doi.org/10.3390/..
 
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4

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) ..:

Beck, Tyler F ; Veenma, Danielle ; Shchelochkov, Oleg A...
Human Molecular Genetics.  29 (2020)  6 - p. 1054-1054 , 2020
Link: https://doi.org/10.1093/..
 
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5

Novel GAA Variants and Mosaicism in Pompe Disease Identifie..:

in 't Groen, Stijn L.M. ; de Faria, Douglas O.S. ; Iuliano, Alessandro...
Molecular Therapy - Methods & Clinical Development.  17 (2020)  - p. 337-348 , 2020
Link: https://doi.org/10.1016/..
 
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6

A point mutation in the pre-ZRS disrupts sonic hedgehog exp..:

Potuijt, Jacob W.P. ; Baas, Martijn ; Sukenik-Halevy, Rivka...
Genetics in Medicine.  20 (2018)  11 - p. 1405-1413 , 2018
Link: https://doi.org/10.1038/..
 
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7

Variants in members of the cadherin–catenin complex, CDH1 a..:

Kievit, Anneke ; Tessadori, Federico ; Douben, Hannie...
European Journal of Human Genetics.  26 (2018)  2 - p. 210-219 , 2018
Link: https://doi.org/10.1038/..
 
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8

Copy number variations in 375 patients with oesophageal atr..:

Brosens, Erwin ; Marsch, Florian ; de Jong, Elisabeth M...
European Journal of Human Genetics.  24 (2016)  12 - p. 1715-1723 , 2016
Link: https://doi.org/10.1038/..
 
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9

Stable X Chromosome Reactivation in Female Human Induced Pl..:

Barakat, Tahsin Stefan ; Ghazvini, Mehrnaz ; de Hoon, Bas...
Stem Cell Reports.  4 (2015)  2 - p. 199-208 , 2015
Link: https://doi.org/10.1016/..
 
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10

Early-onset parkinsonism caused by alpha-synuclein gene tri..:

Olgiati, Simone ; Thomas, Astrid ; Quadri, Marialuisa...
Parkinsonism & Related Disorders.  21 (2015)  8 - p. 981-986 , 2015
Link: https://doi.org/10.1016/..
 
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11

Epigenetic Characterization of the FMR1 Promoter in Induced..:

de Esch, Celine E.F. ; Ghazvini, Mehrnaz ; Loos, Friedemann...
Stem Cell Reports.  3 (2014)  4 - p. 548-555 , 2014
Link: https://doi.org/10.1016/..
 
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12

Structural genome variations in individuals with childhood ..:

Hopman, Saskia ; Merks, Johannes ; Eussen, Hubertus...
European Journal of Cancer.  49 (2013)  9 - p. 2170-2178 , 2013
Link: https://doi.org/10.1016/..
 
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13

Culture expansion induces non-tumorigenic aneuploidy in adi..:

Roemeling-van Rhijn, Marieke ; de Klein, Annelies ; Douben, Hannie...
Cytotherapy.  15 (2013)  11 - p. 1352-1361 , 2013
Link: https://doi.org/10.1016/..
 
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14

A de novo 14q12q13.3 interstitial deletion in a patient aff..:

Fonseca, Dora Janeth ; Prada, Carlos Fernando ; Siza, Luz Miriam...
American Journal of Medical Genetics Part A.  158A (2012)  3 - p. 689-693 , 2012
Link: https://doi.org/10.1002/..
 
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15

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) ..:

Beck, Tyler F ; Veenma, Danielle ; Shchelochkov, Oleg A...
Human Molecular Genetics.  22 (2012)  5 - p. 1026-1038 , 2012
Link: https://doi.org/10.1093/..
 
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