E-LIB Suche - Ergebnisse für: Sigaudy, Sabine

1

Prenatal exome sequencing, a powerful tool for improving th..:

Thauvin‐Robinet, Christel ; Garde, Aurore ; Delanne, Julian...
Prenatal Diagnosis. 44 (2024) 10 - p. 1179-1197 , 2024

2

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrom..:

Freud, Lindsay R. ; Galloway, Stephanie ; Crowley, T. Blaine...
American Journal of Obstetrics and Gynecology. 230 (2024) 3 - p. 368.e1-368.e12 , 2024

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

3

Dermatological manifestations in Costello syndrome: A prosp..:

Bessis, Didier ; Bursztejn, Anne‐Claire ; Morice‐Picard, Fanny...
Journal of the European Academy of Dermatology and Venereology. 38 (2024) 9 - p. 1818-1827 , 2024

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

4

Extending the clinical spectrum of X-linked Tonne-Kalscheue..:

Cuinat, Silvestre ; Quélin, Chloé ; Effray, Claire...
Journal of Medical Genetics. 61 (2024) 9 - p. 824-832 , 2024

Link: https://doi.org/10.1136/..

5

Loss of NDST1 N-sulfotransferase activity is associated wit..:

Khosrowabadi, Elham ; Mignon-Ravix, Cécile ; Riccardi, Florence...
Human Molecular Genetics. 33 (2023) 6 - p. 520-529 , 2023

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

6

Real-world evidence in achondroplasia: considerations for a..:

Alanay, Yasemin ; Mohnike, Klaus ; Nilsson, Ola...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

7

Novel Exon-Skipping Therapeutic Approach for the DMD Gene B..:

Abaji, Mario ; Gorokhova, Svetlana ; Da Silva, Nathalie...
Genes. 13 (2022) 7 - p. 1277 , 2022

Link: https://doi.org/10.3390/..

8

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, Claire ; Burkitt-Wright, Emma ; Turnpenny, Peter D....
European Journal of Human Genetics. 30 (2021) 3 - p. 291-297 , 2021

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

9

10 years of CEMARA database in the AnDDI-Rares network: a u..:

Messiaen, Claude ; Racine, Caroline ; Khatim, Ahlem...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

10

Severe Phenotype in Patients with Large Deletions of NF1:

Pacot, Laurence ; Vidaud, Dominique ; Sabbagh, Audrey...
Cancers. 13 (2021) 12 - p. 2963 , 2021

Link: https://doi.org/10.3390/..

11

Neurodevelopmental phenotype in 36 new patients with 8p inv..:

Vibert, Roseline ; Mignot, Cyril ; Keren, Boris...
Clinical Genetics. 101 (2021) 3 - p. 307-316 , 2021

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

12

Correspondence on "De novo variants in MED12 cause X-linked..:

Riccardi, Florence ; Astier, Alexandre ; Grisval, Margot...
Genetics in Medicine. 23 (2021) 10 - p. 2003-2004 , 2021

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

13

Fetal megacystis‐microcolon: Genetic mutational spectrum an..:

Billon, Clarisse ; Molin, Arnaud ; Poirsier, Céline...
Clinical Genetics. 98 (2020) 3 - p. 261-273 , 2020

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

14

Confirmation of FZD5 implication in a cohort of 50 patients..:

Aubert-Mucca, Marion ; Pernin-Grandjean, Julie ; Marchasson, Sébastien...
European Journal of Human Genetics. 29 (2020) 1 - p. 131-140 , 2020

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

15

Accuracy of prenatal screening for congenital heart disease..:

Suard, Cornélie ; Flori, Audrey ; Paoli, Florent...
PLOS ONE. 15 (2020) 10 - p. e0239476 , 2020

Link: https://doi.org/10.1371/..