E-LIB Suche - Ergebnisse für: Duerinckx, Sarah

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#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/..

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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/..

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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/..

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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/..

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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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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/..

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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/..

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Autosomal recessive primary microcephaly due to ASPM mutati..:

Létard, Pascaline ; Drunat, Séverine ; Vial, Yoann...
Human Mutation. 39 (2018) 3 - p. 319-332 , 2018

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

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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/..

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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/..

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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/..

13

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...

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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..

15

Congenital hydrocephalus: new Mendelian mutations and evide..:

Jacquemin, Valerie ; Versbraegen, Nassim ; Duerinckx, Sarah...
boreal:282674. , 2023

Link: http://hdl.handle.net/20..