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Duerinckx, Sarah
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Online (54)
Mediatypes
Articles (Online) (12)
OpenAccess-fulltext (42)
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1
#4917 AN EXOME-WIDE STUDY OF RENAL OPERATIONAL TOLERANCE:
Massart, Annick
;
Danger, Richard
;
Olsen, Catharina
...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023
Link:
https://doi.org/10.1093/..
?
2
An exome-wide study of renal operational tolerance:
Massart, Annick
;
Danger, Richard
;
Olsen, Catharina
...
Frontiers in Medicine. 9 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
3
Congenital hydrocephalus: new Mendelian mutations and evide..:
Jacquemin, Valerie
;
Versbraegen, Nassim
;
Duerinckx, Sarah
...
Human Genomics. 17 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
4
Putative founder effect of Arg338* AP4M1 (SPG50) variant ca..:
Becker, Aurélie
;
Felici, Charlotte
;
Lambert, Laëtitia
...
Clinical Genetics. 103 (2022) 3 - p. 346-351 , 2022
Link:
https://doi.org/10.1111/..
?
5
Compound heterozygous null mutations of NOBOX in sisters wi..:
Sassi, Asma
;
Désir, Julie
;
Duerinckx, Sarah
...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021
Link:
https://doi.org/10.1002/..
?
6
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/..
?
7
TrkA mediates effect of novel KIDINS220 mutation in human b..:
Jacquemin, Valerie
;
Antoine, Mathieu
;
Duerinckx, Sarah
...
Human Molecular Genetics. 29 (2020) 23 - p. 3757-3764 , 2020
Link:
https://doi.org/10.1093/..
?
8
Digenic inheritance of human primary microcephaly delineate..:
Duerinckx, Sarah
;
Jacquemin, Valérie
;
Drunat, Séverine
...
Human Mutation. 41 (2019) 2 - p. 512-524 , 2019
Link:
https://doi.org/10.1002/..
?
9
Phenotypes in siblings with homozygous mutations of TRAPPC9..:
Duerinckx, Sarah
;
Meuwissen, Marije
;
Perazzolo, Camille
...
Molecular Genetics & Genomic Medicine. 6 (2018) 4 - p. 660-665 , 2018
Link:
https://doi.org/10.1002/..
?
10
The genetics of congenitally small brains:
Duerinckx, Sarah
;
Abramowicz, Marc
Seminars in Cell & Developmental Biology. 76 (2018) - p. 76-85 , 2018
Link:
https://doi.org/10.1016/..
?
11
Severe congenital microcephaly with AP4M1 mutation, a case ..:
Duerinckx, Sarah
;
Verhelst, Helene
;
Perazzolo, Camille
...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
?
12
Congenital hydrocephalus: new Mendelian mutations and evide..:
Jacquemin, Valerie
;
Versbraegen, Nassim
;
Duerinckx, Sarah
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979489/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
13
An exome-wide study of renal operational tolerance:
Massart, Annick
;
Danger, Richard
;
Olsen, Catharina
...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fmed.2022.976248. , 2023
Link:
https://inserm.hal.scien..
?
14
Congenital hydrocephalus: new Mendelian mutations and evide..:
Jacquemin, Valerie
;
Versbraegen, Nassim
;
Duerinckx, Sarah
...
boreal:282674. , 2023
Link:
http://hdl.handle.net/20..
?
15
An exome-wide study of renal operational tolerance:
Massart, Annick
;
Danger, Richard
;
Olsen, Catharina
...
uri/info:doi/10.3389/fmed.2022.976248. , 2023
Link:
http://hdl.handle.net/20..
1-15