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Schluth-Bolard, Caroline
249
results:
Search for persons
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Format
Online (249)
Mediatypes
Articles (Online) (44)
Bookchapter (Online) (2)
OpenAccess-fulltext (203)
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english (233)
french (11)
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1
Author Correction: Possible association of 16p11.2 copy num..:
Giannuzzi, Giuliana
;
Chatron, Nicolas
;
Mannik, Katrin
...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
2
2p25.3 microduplications involving MYT1L: further phenotypi..:
Bouassida, Malek
;
Egloff, Matthieu
;
Levy, Jonathan
...
European Journal of Human Genetics. 31 (2023) 8 - p. 895-904 , 2023
Link:
https://doi.org/10.1038/..
?
3
Disruption and deletion of the proximal part of TCF4 are as..:
Masson, Julie
;
Pons, Linda
;
Busa, Tiffany
...
European Journal of Medical Genetics. 65 (2022) 4 - p. 104458 , 2022
Link:
https://doi.org/10.1016/..
?
4
Double inversion paracentrique parentale du même bras chrom..:
Kuentz, Paul
;
Vitobello, Antonio
;
Keren, Boris
...
Morphologie. 106 (2022) 354 - p. S17 , 2022
Link:
https://doi.org/10.1016/..
?
5
Place de la cartographie optique du génome dans la détectio..:
El Khattabi, Laïla
;
Schluth-Bolard, Caroline
;
Richard-Pebrel, Céline
..
Morphologie. 106 (2022) 354 - p. S7-S8 , 2022
Link:
https://doi.org/10.1016/..
?
6
Possible association of 16p11.2 copy number variation with ..:
Giannuzzi, Giuliana
;
Chatron, Nicolas
;
Mannik, Katrin
...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
7
Alpha Satellite Insertion Close to an Ancestral Centromeric..:
Giannuzzi, Giuliana
;
Logsdon, Glennis A
;
Chatron, Nicolas
...
Molecular Biology and Evolution. 38 (2021) 12 - p. 5576-5587 , 2021
Link:
https://doi.org/10.1093/..
?
8
Optical genome mapping enables constitutional chromosomal a..:
Mantere, Tuomo
;
Neveling, Kornelia
;
Richard, Céline
...
Molecular Genetics and Metabolism. 132 (2021) - p. S263 , 2021
Link:
https://doi.org/10.1016/..
?
9
Le facteur de transcription PBX1 est responsable d'anomalie..:
Mary, Laura
;
Bigand, Antoine
;
Cauchoix, Aurélie
...
Morphologie. 105 (2021) 350 - p. S3-S4 , 2021
Link:
https://doi.org/10.1016/..
?
10
Widening of the genetic and clinical spectrum of Lamb–Shaff..:
Zawerton, Ash
;
Mignot, Cyril
;
Sigafoos, Ashley
...
Genetics in Medicine. 22 (2020) 3 - p. 524-537 , 2020
Link:
https://doi.org/10.1038/..
?
11
Follow-up of two adult brothers with homozygous CEP57 patho..:
Dery, Tania
;
Chatron, Nicolas
;
Alqahtani, Amerh
...
European Journal of Medical Genetics. 63 (2020) 11 - p. 104044 , 2020
Link:
https://doi.org/10.1016/..
?
12
A 14q distal chromoanagenesis elucidated by whole genome se..:
Ader, Flavie
;
Heide, Solveig
;
Marzin, Pauline
...
European Journal of Medical Genetics. 63 (2020) 4 - p. 103776 , 2020
Link:
https://doi.org/10.1016/..
?
13
Fryns type mesomelic dysplasia of the upper limbs caused by..:
Le Caignec, Cédric
;
Pichon, Olivier
;
Briand, Annaig
...
European Journal of Human Genetics. 28 (2019) 3 - p. 324-332 , 2019
Link:
https://doi.org/10.1038/..
?
14
Molecular investigation, using chromosomal microarray and w..:
Masson, Julie
;
Demily, Caroline
;
Chatron, Nicolas
...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1186/..
?
15
Asparagine synthetase deficiency: A novel case with an unus..:
Faoucher, Marie
;
Poulat, Anne-Lise
;
Chatron, Nicolas
...
Molecular Genetics and Metabolism Reports. 21 (2019) - p. 100509 , 2019
Link:
https://doi.org/10.1016/..
1-15