E-LIB Suche - Ergebnisse für: Smits, Guillaume

1

P229: Non-coding variants create an enhancer cluster that c..:

Swanson, Elliott ; Grasberger, Helmut ; Dumitrescu, Alexandra...
Genetics in Medicine Open. 2 (2024) - p. 101126 , 2024

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

2

POT1 tumour predisposition: a broader spectrum of associate..:

Baptista Freitas, Marta ; Desmyter, Laurence ; Badoer, Cindy...
European Journal of Human Genetics. , 2024

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

3

Prioritization of oligogenic variant combinations in whole ..:

Gravel, Barbara ; Renaux, Alexandre ; Papadimitriou, Sofia...
Bioinformatics. 40 (2024) 4 - p. , 2024

Link: https://doi.org/10.1093/..

4

A milder form of NSRP1‐associated neurodevelopmental disord..:

Neuens, Sebastian ; Kausar, Maiza ; Kang, Sun‐Kyoung...
American Journal of Medical Genetics Part A. , 2024

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

5

A novel homozygous variant in SLC25A46 gene associated with..:

Guillaume, Adrien ; Stejskal, Vojtech ; Smits, Guillaume.
Frontiers in Pediatrics. 12 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

6

Efficiency of clinical exome sequencing in the diagnosis of..:

Salik, Deborah ; Marangoni, Martina ; Dangoisse, Chantal..
Journal of the American Academy of Dermatology. 90 (2024) 5 - p. 1020-1023 , 2024

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

7

STR mutations on chromosome 15q cause thyrotropin resistanc..:

Grasberger, Helmut ; Dumitrescu, Alexandra M. ; Liao, Xiao-Hui...
Nature Genetics. 56 (2024) 5 - p. 877-888 , 2024

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

8

Toward reporting standards for the pathogenicity of variant..:

Papadimitriou, Sofia ; Gravel, Barbara ; Nachtegael, Charlotte...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100165 , 2023

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

9

Comprehensive evaluation of the implementation of episignat..:

Giuili, Edoardo ; Grolaux, Robin ; Macedo, Catarina Z. N. M....
Human Genetics. 142 (2023) 12 - p. 1721-1735 , 2023

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

10

Salt-losing tubulopathy worsening the prognosis of renal sa..:

Abu Ayyach, Anis ; Le Moine, Alain ; Kaci, Louiza...
Journal of Nephrology. 36 (2023) 3 - p. 627-630 , 2023

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

11

#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/..

12

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/..

13

Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndr..:

van Renterghem, Victoria ; Vilain, Catheline ; Devriendt, Koenraad...
European Journal of Medical Genetics. 66 (2023) 4 - p. 104729 , 2023

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

14

Evaluation of neurodevelopmental symptoms in 10 cases of ne..:

Salik, Deborah ; Hadj‐Rabia, Smail ; Hohl, Daniel...
Pediatric Dermatology. 39 (2022) 4 - p. 590-593 , 2022

Link: https://doi.org/10.1111/..

15

Early‐onset and severe pulmonary arterial hypertension due ..:

Chomette, Laura ; Migeotte, Isabelle ; Dewachter, Céline...
Pulmonary Circulation. 12 (2022) 2 - p. , 2022

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