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Oud, Machteld M.
~ 300  results:
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1

Utilization of automated cilia analysis to characterize nov..:

Whiting, Kae R. ; Haer-Wigman, Lonneke ; Florijn, Ralph J....
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Genome and RNA sequencing were essential to reveal cryptic ..:

Morales-Romero, Blai ; Muñoz-Pujol, Gerard ; Artuch, Rafael...
Molecular Genetics and Metabolism.  142 (2024)  3 - p. 108511 , 2024
Link: https://doi.org/10.1016/..
 
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3

Inherited metabolic disorders in adults: systematic review ..:

Ferreira, Elise A. ; Buijs, Mark J. N. ; Wijngaard, Robin...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Ciliary phenotyping in renal epithelial cells in a cranioec..:

Walczak-Sztulpa, Joanna ; Wawrocka, Anna ; Kuszel, Łukasz...
Frontiers in Molecular Biosciences.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

Identical IFT140 Variants Cause Variable Skeletal Ciliopath..:

Walczak-Sztulpa, Joanna ; Wawrocka, Anna ; Doornbos, Cenna...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

How to proceed after "negative" exome: A review on genetic ..:

Wortmann, Saskia B. ; Oud, Machteld M. ; Alders, Mariëlle...
Journal of Inherited Metabolic Disease.  45 (2022)  4 - p. 663-681 , 2022
Link: https://doi.org/10.1002/..
 
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7

Interfamilial clinical variability in four Polish families ..:

Walczak‐Sztulpa, Joanna ; Wawrocka, Anna ; Stańczyk, Małgorzata...
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1195-1203 , 2021
Link: https://doi.org/10.1002/..
 
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8

NANS-CDG: Delineation of the Genetic, Biochemical, and Clin..:

den Hollander, Bibiche ; Rasing, Anne ; Post, Merel A....
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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9

Cell-based assay for ciliopathy patients to improve accurat..:

Doornbos, Cenna ; van Beek, Ronald ; Bongers, Ernie M. H. F....
European Journal of Human Genetics.  29 (2021)  11 - p. 1677-1689 , 2021
Link: https://doi.org/10.1038/..
 
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10

Compound heterozygous IFT140 variants in two Polish familie..:

Walczak-Sztulpa, Joanna ; Posmyk, Renata ; Bukowska-Olech, Ewelina M....
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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11

Cellular ciliary phenotyping indicates pathogenicity of nov..:

Oud, Machteld M. ; Latour, Brooke L. ; Bakey, Zeineb...
Cilia.  7 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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12

The KOUNCIL Consortium: From Genetic Defects to Therapeutic..:

Renkema, Kirsten Y. ; Giles, Rachel H. ; Lilien, Marc R....
Frontiers in Pediatrics.  6 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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13

A novel ICK mutation causes ciliary disruption and lethal e..:

Oud, Machteld M. ; Bonnard, Carine ; Mans, Dorus A....
Cilia.  5 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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14

De novo 14q24.2q24.3 microdeletion including IFT43 is assoc..:

Stokman, Marijn F. ; Oud, Machteld M. ; van Binsbergen, Ellen...
American Journal of Medical Genetics Part A.  170 (2016)  6 - p. 1566-1569 , 2016
Link: https://doi.org/10.1002/..
 
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15

An organelle-specific protein landscape identifies novel di..:

Boldt, Karsten ; van Reeuwijk, Jeroen ; Lu, Qianhao...
Nature Communications.  7 (2016)  1 - p. , 2016
Link: https://doi.org/10.1038/..
 
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