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Schluth-Bolard, Caroline
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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