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Chambon, Pascal
319  results:
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1

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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2

Generation of 17q21.31 duplication iPSC-derived neurons as ..:

Miguel, Laetitia ; Rovelet-Lecrux, Anne ; Chambon, Pascal...
Stem Cell Research.  61 (2022)  - p. 102762 , 2022
Link: https://doi.org/10.1016/..
 
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3

Heterozygous deletion of the VEGFC gene in 4q34.3 is associ..:

Huynh, Minh‐Tuan ; Degre, Sophie ; Joly‐Helas, Géraldine...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3550-3554 , 2022
Link: https://doi.org/10.1002/..
 
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4

Evidence for high breakpoint variability in 46, XX, SRY‐pos..:

Capron, Céline ; Januel, Louis ; Vieville, Gaëlle...
Andrology.  10 (2022)  8 - p. 1625-1631 , 2022
Link: https://doi.org/10.1111/..
 
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5

Neuropathological hallmarks of fetal hydrocephalus linked t..:

Marguet, Florent ; Vezain, Myriam ; Marcorelles, Pascale...
Acta Neuropathologica Communications.  9 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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6

Assessment of Multiplex Digital Droplet RT-PCR as a Diagnos..:

Cassinari, Kévin ; Alessandri-Gradt, Elodie ; Chambon, Pascal...
Clinical Chemistry.  67 (2021)  5 - p. 736-741 , 2021
Link: https://doi.org/10.1093/..
 
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7

Recurrence of an early postzygotic rescue of an inherited u..:

Blanluet, Maud ; Chantot‐Bastaraud, Sandra ; Chambon, Pascal...
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 3057-3061 , 2021
Link: https://doi.org/10.1002/..
 
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8

Detection of copy-number variations from NGS data using rea..:

FREX Consortium ; Quenez, Olivier ; Cassinari, Kevin...
European Journal of Human Genetics.  29 (2020)  1 - p. 99-109 , 2020
Link: https://doi.org/10.1038/..
 
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9

Patients with 10q22.3q23.1 recurrent deletion syndrome are ..:

Lecoquierre, François ; Cassinari, Kévin ; Chambon, Pascal...
European Journal of Medical Genetics.  63 (2020)  4 - p. 103773 , 2020
Link: https://doi.org/10.1016/..
 
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10

Simultaneous detection of EGFR amplification and EGFRvIII v..:

Fontanilles, Maxime ; Marguet, Florent ; Ruminy, Philippe...
Acta Neuropathologica Communications.  8 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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11

Haploinsufficiency of the Primary Familial Brain Calcificat..:

Cassinari, Kévin ; Rovelet‐Lecrux, Anne ; Tury, Sandrine...
Movement Disorders.  35 (2020)  8 - p. 1336-1345 , 2020
Link: https://doi.org/10.1002/..
 
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12

Rare genetic susceptibility variants assessment in autism s..:

Husson, Thomas ; Lecoquierre, François ; Cassinari, Kevin...
Translational Psychiatry.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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13

Discordances multiples entre dépistage de la trisomie 21 su..:

Cassinari, Kévin ; Joly-Helas, Géraldine ; Le Meur, Nathalie...
Morphologie.  103 (2019)  342 - p. 85-86 , 2019
Link: https://doi.org/10.1016/..
 
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14

A Simple, Universal, and Cost-Efficient Digital PCR Method ..:

Cassinari, Kévin ; Quenez, Olivier ; Joly-Hélas, Géraldine...
Clinical Chemistry.  65 (2019)  9 - p. 1153-1160 , 2019
Link: https://doi.org/10.1373/..
 
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15

Metabolic causes of nonimmune hydrops fetalis: A next-gener..:

Sudrié-Arnaud, Bénédicte ; Marguet, Florent ; Patrier, Sophie...
Clinica Chimica Acta.  481 (2018)  - p. 1-8 , 2018
Link: https://doi.org/10.1016/..
 
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