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Vanakker, Olivier
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1

HRAS‐related epidermal nevus syndromes: Expansion of the sp..:

Beyens, Aude ; Lietaer, Charlotte ; Claes, Kathleen...
Clinical Genetics.  103 (2023)  6 - p. 709-713 , 2023
Link: https://doi.org/10.1111/..
 
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2

C-terminal frameshift variant of TDP-43 with pronounced agg..:

Ervilha Pereira, Pedro ; Schuermans, Nika ; Meylemans, Antoon...
Acta Neuropathologica.  145 (2023)  6 - p. 793-814 , 2023
Link: https://doi.org/10.1007/..
 
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3

Various vascular malformations are prevalent in Finnish pse..:

Pelttari, Saku ; Väärämäki, Suvi ; Vanakker, Olivier...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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4

Phenotypes and genotypes in non‐consanguineous and consangu..:

Duerinckx, Sarah ; Désir, Julie ; Perazzolo, Camille...
Molecular Genetics & Genomic Medicine.  9 (2021)  9 - p. , 2021
Link: https://doi.org/10.1002/..
 
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5

Correction: Disruption of NEUROD2 causes a neurodevelopment..:

Runge, Karen ; Mathieu, Rémi ; Bugeon, Stéphane...
Molecular Psychiatry.  26 (2021)  12 - p. 7852-7852 , 2021
Link: https://doi.org/10.1038/..
 
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6

Disruption of NEUROD2 causes a neurodevelopmental syndrome ..:

Runge, Karen ; Mathieu, Rémi ; Bugeon, Stéphane...
Molecular Psychiatry.  26 (2021)  11 - p. 6125-6148 , 2021
Link: https://doi.org/10.1038/..
 
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7

Genotype-phenotype correlation in pseudoxanthoma elasticum:

Bartstra, Jonas W. ; Risseeuw, Sara ; de Jong, Pim A....
Atherosclerosis.  324 (2021)  - p. 18-26 , 2021
Link: https://doi.org/10.1016/..
 
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8

Genetic deletion of Abcc6 disturbs cholesterol homeostasis ..:

Ibold, Bettina ; Tiemann, Janina ; Faust, Isabel...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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9

Nonlinear optical microscopy is a novel tool for the analys..:

Kiss, Norbert ; Fésűs, Luca ; Bozsányi, Szabolcs...
Lasers in Medical Science.  35 (2020)  8 - p. 1821-1830 , 2020
Link: https://doi.org/10.1007/..
 
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10

Novel defects in collagen XII and VI expand the mixed myopa..:

Delbaere, Sarah ; Dhooge, Tibbe ; Syx, Delfien...
Genetics in Medicine.  22 (2020)  1 - p. 112-123 , 2020
Link: https://doi.org/10.1038/..
 
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11

The Role of Vitamin K and Its Related Compounds in Mendelia..:

Nollet, Lukas ; Van Gils, Matthias ; Verschuere, Shana.
International Journal of Molecular Sciences.  20 (2019)  9 - p. 2142 , 2019
Link: https://doi.org/10.3390/..
 
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12

Endogenous Calcification Inhibitors in the Prevention of Va..:

Bäck, Magnus ; Aranyi, Tamas ; Cancela, M. Leonor...
Frontiers in Cardiovascular Medicine.  5 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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13

Primary brain calcification: an international study reporti..:

The French PFBC study group ; Ramos, Eliana Marisa ; Carecchio, Miryam...
European Journal of Human Genetics.  26 (2018)  10 - p. 1462-1477 , 2018
Link: https://doi.org/10.1038/..
 
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14

De novo mutations in MSL3 cause an X-linked syndrome marked..:

DDD Study ; Basilicata, M. Felicia ; Bruel, Ange-Line...
Nature Genetics.  50 (2018)  10 - p. 1442-1451 , 2018
Link: https://doi.org/10.1038/..
 
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15

Delineating the psychiatric and behavioral phenotype of rec..:

Wolfe, Kate ; McQuillin, Andrew ; Alesi, Viola...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  177 (2018)  4 - p. 397-405 , 2018
Link: https://doi.org/10.1002/..
 
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