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Schrauwen, Isabelle
222
results:
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Online (222)
Mediatypes
Articles (Online) (102)
OpenAccess-fulltext (120)
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1
Heterogeneous genetic patterns in bilateral perisylvian pol..:
Järvelä, Irma
;
Paetau, Ritva
;
Rajendran, Yasmin
...
Brain Communications. 6 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1093/..
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2
Optical genome mapping unveils hidden structural variants i..:
Schrauwen, Isabelle
;
Rajendran, Yasmin
;
Acharya, Anushree
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
3
O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:
Somerville, Cherith
;
Erkut, Ersa
;
Schwartz, Marci
...
Genetics in Medicine Open. 2 (2024) - p. 101469 , 2024
Link:
https://doi.org/10.1016/..
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4
Nonsense variant in a consanguineous family expands the phe..:
Liaqat, Khurram
;
Bharadwaj, Thashi
;
Shah, Khadim
...
Clinical Genetics. 104 (2023) 4 - p. 499-501 , 2023
Link:
https://doi.org/10.1111/..
?
5
A Novel Variant in VPS13B Underlying Cohen Syndrome:
Hussain, Abrar
;
Acharya, Anushree
;
Bharadwaj, Thashi
...
BioMed Research International. 2023 (2023) - p. 1-7 , 2023
Link:
https://doi.org/10.1155/..
?
6
A novel variant in CYFIP2 in a girl with severe disabilitie..:
Salokivi, Tommi
;
Parkkola, Riitta
;
Rajendran, Yasmin
...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023
Link:
https://doi.org/10.1002/..
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7
Variants of LRP2, encoding a multifunctional cell‐surface e..:
Faridi, Rabia
;
Yousaf, Rizwan
;
Gu, Shoujun
...
Clinical Genetics. 103 (2023) 6 - p. 699-703 , 2023
Link:
https://doi.org/10.1111/..
?
8
The genetic contribution of the X chromosome in age-related..:
Naderi, Elnaz
;
Cornejo-Sanchez, Diana M.
;
Li, Guangyou
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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9
Genetic and Protein Network Underlying the Convergence of R..:
Frankel, Eric
;
Podder, Avijit
;
Sharifi, Megan
...
Cells. 12 (2023) 10 - p. 1437 , 2023
Link:
https://doi.org/10.3390/..
?
10
A loss of function variant in AGPAT3 underlies intellectual..:
Malik, Madiha Amin
;
Saqib, Muhammad Arif Nadeem
;
Mientjes, Edwin
...
European Journal of Human Genetics. 31 (2023) 12 - p. 1447-1454 , 2023
Link:
https://doi.org/10.1038/..
?
11
Rare-variant association analysis reveals known and new age..:
Cornejo-Sanchez, Diana M.
;
Li, Guangyou
;
Fabiha, Tabassum
...
European Journal of Human Genetics. 31 (2023) 6 - p. 638-647 , 2023
Link:
https://doi.org/10.1038/..
?
12
Variants in EFCAB7 underlie nonsyndromic postaxial polydact..:
Bilal, Muhammad
;
Khan, Hammal
;
Khan, Muhammad Javed
...
European Journal of Human Genetics. 31 (2023) 11 - p. 1270-1274 , 2023
Link:
https://doi.org/10.1038/..
?
13
Targeted Resequencing of Otosclerosis Patients from Differe..:
Tavernier, Lisse J. M.
;
Vanpoucke, Thomas
;
Schrauwen, Isabelle
..
Journal of Clinical Medicine. 11 (2022) 23 - p. 6978 , 2022
Link:
https://doi.org/10.3390/..
?
14
SCN1A Variants as the Underlying Cause of Genetic Epilepsy ..:
Cornejo-Sanchez, Diana M.
;
Acharya, Anushree
;
Bharadwaj, Thashi
...
Genes. 13 (2022) 5 - p. 754 , 2022
Link:
https://doi.org/10.3390/..
?
15
Phenotype Expansion for Atypical Gaucher Disease Due to Hom..:
Liaqat, Khurram
;
Hussain, Shabir
;
Acharya, Anushree
...
Genes. 13 (2022) 4 - p. 662 , 2022
Link:
https://doi.org/10.3390/..
1-15