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Verloes, Alain
693  results:
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1

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/..
 
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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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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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/..
 
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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/..
 
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8

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/..
 
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9

Impaired OTUD7A-dependent Ankyrin regulation mediates neuro..:

Unda, Brianna K. ; Chalil, Leon ; Yoon, Sehyoun...
Molecular Psychiatry.  , 2023
Link: https://doi.org/10.1038/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

Genome-wide variant calling in reanalysis of exome sequenci..:

de Boer, Elke ; Yaldiz, Burcu ; Denommé-Pichon, Anne-Sophie...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104402 , 2022
Link: https://doi.org/10.1016/..
 
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15

De novo NUF2 variant in a novel inherited bone marrow failu..:

Vial, Yoann ; Lainey, Elodie ; Leblanc, Thierry...
British Journal of Haematology.  199 (2022)  5 - p. 739-743 , 2022
Link: https://doi.org/10.1111/..
 
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