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Tjakko J. van Ham
171  results:
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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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Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108328 , 2024
Link: https://doi.org/10.1016/..
 
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3

Biallelic variants in FLII cause pediatric cardiomyopathy b..:

Ruijmbeek, Claudine W.B. ; Housley, Filomena ; Idrees, Hafiza...
JCI Insight.  8 (2023)  17 - p. , 2023
Link: https://doi.org/10.1172/..
 
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SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
Brain.  146 (2023)  8 - p. 3528-3541 , 2023
Link: https://doi.org/10.1093/..
 
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5

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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6

Unexplained mismatch repair deficiency: Case closed:

Eikenboom, Ellis L. ; Moen, Sarah ; van Leeuwen, Lotte...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100167 , 2023
Link: https://doi.org/10.1016/..
 
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7

High‐yield identification of pathogenicNF1variants by skin ..:

Douben, Hannie C. W. ; Nellist, Mark ; van Unen, Leontine...
Human Mutation.  43 (2022)  12 - p. 2130-2140 , 2022
Link: https://doi.org/10.1002/..
 
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8

Three patients with defects in interferon gamma receptor si..:

Zhou, Zijun ; Hollink, Iris H. I. M. ; Bouman, Arjan...
Pediatric Allergy and Immunology.  33 (2022)  4 - p. , 2022
Link: https://doi.org/10.1111/..
 
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9

Dominant-acting CSF1R variants cause microglial depletion a..:

Berdowski, Woutje M. ; van der Linde, Herma C. ; Breur, Marjolein...
Acta Neuropathologica.  144 (2022)  2 - p. 211-239 , 2022
Link: https://doi.org/10.1007/..
 
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10

Noncoding Aberrations in Mismatch Repair Genes Underlie a S..:

Te Paske, Iris B.A.W. ; Mensenkamp, Arjen R. ; Neveling, Kornelia...
Gastroenterology.  163 (2022)  6 - p. 1691-1694.e7 , 2022
Link: https://doi.org/10.1053/..
 
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11

M-CSFR/CSF1R signaling regulates myeloid fates in zebrafish..:

Hason, Martina ; Mikulasova, Tereza ; Machonova, Olga...
Blood Advances.  6 (2022)  5 - p. 1474-1488 , 2022
Link: https://doi.org/10.1182/..
 
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12

CLEC16A interacts with retromer and TRIM27, and its loss im..:

Smits, Daphne J. ; Dekker, Jordy ; Schot, Rachel...
Human Genetics.  142 (2022)  3 - p. 379-397 , 2022
Link: https://doi.org/10.1007/..
 
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13

Transcriptome analysis reveals the contribution of oligoden..:

Timmerman, Raissa ; Zuiderwijk‐Sick, Ella A. ; Oosterhof, Nynke...
Glia.  70 (2021)  4 - p. 728-747 , 2021
Link: https://doi.org/10.1002/..
 
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14

Müller glia–myeloid cell crosstalk accelerates optic nerve ..:

Van Dyck, Annelies ; Bollaerts, Ilse ; Beckers, An...
Glia.  69 (2021)  6 - p. 1444-1463 , 2021
Link: https://doi.org/10.1002/..
 
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15

The multicellular interplay of microglia in health and dise..:

Berdowski, Woutje M. ; Sanderson, Leslie E. ; van Ham, Tjakko J.
Disease Models & Mechanisms.  14 (2021)  8 - p. , 2021
Link: https://doi.org/10.1242/..
 
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