E-LIB Suche - Ergebnisse für: Verloes, A. (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

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/..

3

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/..

4

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/..

5

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/..

6

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/..

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

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/..

9

Impaired OTUD7A-dependent Ankyrin regulation mediates neuro..:

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

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

10

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/..

11

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/..

12

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/..

13

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/..

14

A second look at exome sequencing data: detecting mobile el..:

Garret, Philippine ; Chevarin, Martin ; Vitobello, Antonio...
European Journal of Human Genetics. 31 (2022) 7 - p. 761-768 , 2022

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

15

Management of cardiac aspects in children with Noonan syndr..:

Wolf, Cordula M. ; Zenker, Martin ; Burkitt-Wright, Emma...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104372 , 2022

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