E-LIB Suche - Ergebnisse für: Verheijen, Jan

1

P348: Agnostic analysis of transcriptome sequencing of pati..:

Verheijen, Jan ; William, Nancy ; Figueiral, Marta...
Genetics in Medicine Open. 2 (2024) - p. 101242 , 2024

Link: https://doi.org/10.1016/..

2

P341: Identification of novel variants and phenotypic expan..:

Verheijen, Jan ; Vanhye, Lotte ; Shaikh, Ayesha Niaz...
Genetics in Medicine Open. 1 (2023) 1 - p. 100369 , 2023

Link: https://doi.org/10.1016/..

3

Therapeutic approaches in Congenital Disorders of Glycosyla..:

Verheijen, Jan ; Tahata, Shawn ; Kozicz, Tamas..
Genetics in Medicine. 22 (2020) 2 - p. 268-279 , 2020

Link: https://doi.org/10.1038/..

4

Defining a new immune deficiency syndrome: MAN2B2-CDG:

Verheijen, Jan ; Wong, Sunnie Y. ; Rowe, Jared H....
Journal of Allergy and Clinical Immunology. 145 (2020) 3 - p. 1008-1011 , 2020

Link: https://doi.org/10.1016/..

5

A novel phosphoglucomutase‐deficient mouse model reveals ab..:

Balakrishnan, Bijina ; Verheijen, Jan ; Lupo, Arielle...
Journal of Inherited Metabolic Disease. 42 (2019) 5 - p. 998-1007 , 2019

Link: https://doi.org/10.1002/..

6

Repurposing the aldose reductase inhibitor and diabetic neu..:

Iyer, Sangeetha ; Sam, Feba S. ; DiPrimio, Nina...
Disease Models & Mechanisms. , 2019

Link: https://doi.org/10.1242/..

7

Understanding Alzheimer Disease at the Interface between Ge..:

Verheijen, Jan ; Sleegers, Kristel
Trends in Genetics. 34 (2018) 6 - p. 434-447 , 2018

Link: https://doi.org/10.1016/..

8

Common and rare TBK1 variants in early-onset Alzheimer dise..:

Verheijen, Jan ; van der Zee, Julie ; Gijselinck, Ilse...
Neurobiology of Aging. 62 (2018) - p. 245.e1-245.e7 , 2018

Link: https://doi.org/10.1016/..

9

[P2–116]: TRANSCRIPTOME ANALYSIS IN BLOOD AND BRAIN IDENTIF..:

Verheijen, Jan ; Mateiu, Ligia ; De Roeck, Arne...
Alzheimer's & Dementia. 13 (2017) 7S_Part_13 - p. , 2017

Link: https://doi.org/10.1016/..

10

Deleterious ABCA7 mutations and transcript rescue mechanism..:

On behalf of the European Early-Onset Dementia (EU EOD) consortium ; De Roeck, Arne ; Van den Bossche, Tobi...
Acta Neuropathologica. 134 (2017) 3 - p. 475-487 , 2017

Link: https://doi.org/10.1007/..

11

[O2–13–05]: DELETERIOUS ABCA7 MUTATIONS CONTRIBUTE TO EARLY..:

De Roeck, Arne ; Van den Bossche, Tobi ; Verheijen, Jan...
Alzheimer's & Dementia. 13 (2017) 7S_Part_11 - p. , 2017

Link: https://doi.org/10.1016/..

12

A comprehensive study of the genetic impact of rare variant..:

Verheijen, Jan ; Van den Bossche, Tobi ; van der Zee, Julie...
Acta Neuropathologica. 132 (2016) 2 - p. 213-224 , 2016

Link: https://doi.org/10.1007/..

13

A 22‐single nucleotide polymorphism Alzheimer's disease ris..:

Sleegers, Kristel ; Bettens, Karolien ; De Roeck, Arne...
Alzheimer's & Dementia. 11 (2015) 12 - p. 1452-1460 , 2015

Link: https://doi.org/10.1016/..

14

O3‐13‐06: Targeted re‐sequencing of sorl1 in early‐onset Al..:

Sleegers, Kristel ; Verheijen, Jan ; van der Zee, Julie...
Alzheimer's & Dementia. 11 (2015) 7S_Part_5 - p. , 2015

Link: https://doi.org/10.1016/..

15

O4‐04‐03: HIGH SCORES ON A 22‐GENE RISK SCORE FOR ALZHEIMER..:

Bettens, Karolien ; Van Cauwenberghe, Caroline ; Cuyvers, Elise...
Alzheimer's & Dementia. 10 (2014) 4S_Part_4 - p. , 2014

Link: https://doi.org/10.1016/..