E-LIB Suche - Ergebnisse für: VERLOES, Alain

1

Dermatological manifestations in Costello syndrome: A prosp..:

Bessis, Didier ; Bursztejn, Anne‐Claire ; Morice‐Picard, Fanny...
Journal of the European Academy of Dermatology and Venereology. , 2024

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

2

Beyond 'speech delay': Expanding the phenotype of BRPF1-rel..:

Morison, Lottie D. ; Van Reyk, Olivia ; Baker, Emma...
European Journal of Medical Genetics. 68 (2024) - p. 104923 , 2024

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

3

New description of an MRPS2 homozygous patient: Further fea..:

Papadopoulos, Thalia ; Gaignard, Pauline ; Schiff, Manuel...
European Journal of Medical Genetics. 67 (2024) - p. 104889 , 2024

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

4

A multidisciplinary and structured investigation of three s..:

Boudet-Berquier, Julie ; Demattei, Christophe ; Guldner, Laurence...
European Journal of Epidemiology. , 2024

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

5

Bardet-Biedl syndrome improved diagnosis criteria and manag..:

Dollfus, Hélène ; Lilien, Marc R. ; Maffei, Pietro...
European Journal of Human Genetics. , 2024

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

6

Cerebral dural arteriovenous fistulas in patients with PTEN..:

Gerasimenko, Anna ; Mignot, Cyril ; Naggara, Olivier...
Clinical Genetics. 106 (2024) 1 - p. 90-94 , 2024

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

7

Model matchmaking via the Solve-RD Rare Disease Models & Me..:

Ellwanger, Kornelia ; Brill, Julie A. ; de Boer, Elke...
Lab Animal. 53 (2024) 7 - p. 161-165 , 2024

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

8

Addressing diagnostic gaps and priorities of the global rar..:

Adams, David R. ; van Karnebeek, Clara D.M. ; Agulló, Sergi Beltran...
European Journal of Medical Genetics. 70 (2024) - p. 104951 , 2024

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

9

Together4RD position statement on collaboration between Eur..:

Hedley, Victoria ; Bolz-Johnson, Matt ; Hernando, Ines...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

10

Impaired OTUD7A-dependent Ankyrin regulation mediates neuro..:

Unda, Brianna K. ; Chalil, Leon ; Yoon, Sehyoun...
Molecular Psychiatry. , 2023

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

11

PACS2 pathogenic variant associated with malformation of co..:

Checri, Rayann ; Dozières‐Puyravel, Blandine ; Elmaleh‐Bergès, Monique..
Epileptic Disorders. 26 (2023) 2 - p. 215-218 , 2023

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

12

Expanding the phenotype of GTF2E2‐associated trichothiodyst..:

Sperelakis‐Beedham, Brian ; Ruaud, Lyse ; Vial, Yoann...
Journal of the European Academy of Dermatology and Venereology. 38 (2023) 3 - p. , 2023

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

13

Combining globally search for a regular expression and prin..:

Tran Mau-Them, Frédéric ; Overs, Alexis ; Bruel, Ange-Line...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

14

Author Correction: CBP-HSF2 structural and functional inter..:

de Thonel, Aurélie ; Ahlskog, Johanna K. ; Daupin, Kevin...
Nature Communications. 14 (2023) 1 - p. , 2023

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

15

BiallelicTHOC6pathogenic variants: Prenatal phenotype and r..:

Ruaud, Lyse ; Roux, Nathalie ; Boutaud, Lucile...
Birth Defects Research. 114 (2022) 10 - p. 499-504 , 2022

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