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Bonnefont, J.P.
201  results:
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1

Panorama étiologique et génétique de l'hyperammoniémie chez..:

Maquet, J. ; Gobin, S. ; Arnoux, J.B....
La Revue de Médecine Interne.  45 (2024)  - p. A93 , 2024
Link: https://doi.org/10.1016/..
 
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2

P-250 A shared gene expression signature in human blastocys..:

Chatzovoulou, K ; Mayeur, A ; Cagnard, N...
Human Reproduction.  37 (2022)  Supplement_1 - p. , 2022
Link: https://doi.org/10.1093/..
 
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3

Le gêne RYR : ne pas l'oublier:

Perrin, H. ; Karam, J.D. ; Laforet, P....
La Revue de Médecine Interne.  41 (2020)  - p. A179 , 2020
Link: https://doi.org/10.1016/..
 
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4

Impact of the first month of Covid-19 lockdown on oncologic..:

Laccourreye, O. ; Mirghani, H. ; Evrard, D....
European Annals of Otorhinolaryngology, Head and Neck Diseases.  137 (2020)  4 - p. 273-276 , 2020
Link: https://doi.org/10.1016/..
 
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5

Ichtyoses associées aux mutations du gène ABCA12 : caractér..:

Giraud, L. ; Alby, C. ; Leclerc-Mercier, S....
Annales de Dermatologie et de Vénéréologie.  145 (2018)  12 - p. S255 , 2018
Link: https://doi.org/10.1016/..
 
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6

Targeted NGS: an effective approach for molecular diagnosis..:

Burin des Roziers, C. ; Rothschild, P.R. ; Barjol, A....
Acta Ophthalmologica.  95 (2017)  S259 - p. , 2017
Link: https://doi.org/10.1111/..
 
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7

Cervical trophoblasts for non-invasive single-cell genotypi..:

Pfeifer, I. ; Benachi, A. ; Saker, A....
Placenta.  37 (2016)  - p. 56-60 , 2016
Link: https://doi.org/10.1016/..
 
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8

A series of 38 novel germline and somatic mutations ofNIPBL..:

Nizon, M. ; Henry, M. ; Michot, C....
Clinical Genetics.  89 (2016)  5 - p. 584-589 , 2016
Link: https://doi.org/10.1111/..
 
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9

mtDNA mutations variously impact mtDNA maintenance througho..:

Steffann, J. ; Monnot, S. ; Bonnefont, J.-P.
Clinical Genetics.  88 (2015)  5 - p. 416-424 , 2015
Link: https://doi.org/10.1111/..
 
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10

Unique subungueal keratoacanthoma revealing incontinentia p..:

Ferneiny, M. ; Hadj‐Rabia, S. ; Regnier, S....
Journal of the European Academy of Dermatology and Venereology.  30 (2015)  8 - p. 1401-1403 , 2015
Link: https://doi.org/10.1111/..
 
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11

Keratotic follicular plugs with calcifications in Conradi-H..:

Leclerc-Mercier, S. ; Dufernez, F. ; Fraitag, S....
British Journal of Dermatology.  173 (2015)  5 - p. 1316-1318 , 2015
Link: https://doi.org/10.1111/..
 
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12

Pyruvate carboxylase deficiency: An underestimated cause of..:

Habarou, F. ; Brassier, A. ; Rio, M....
Molecular Genetics and Metabolism Reports.  2 (2015)  - p. 25-31 , 2015
Link: https://doi.org/10.1016/..
 
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13

Étude de corrélation génotype-phénotype chez des patients a..:

Auger, J. ; Baptiste, A. ; Schmitt, S....
Annales d'Endocrinologie.  75 (2014)  5-6 - p. 298 , 2014
Link: https://doi.org/10.1016/..
 
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14

Bilateral amastia in a female with X‐linked hypohidrotic ec..:

Al Marzouqi, F. ; Michot, C. ; Dos Santos, S....
British Journal of Dermatology.  171 (2014)  3 - p. 671-673 , 2014
Link: https://doi.org/10.1111/..
 
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15

Clinical and Genetic Study of Algerian Patients with Spinal..:

Sifi, Y. ; Sifi, K. ; Boulefkhad, A....
Journal of Neurodegenerative Diseases.  2013 (2013)  - p. 1-7 , 2013
Link: https://doi.org/10.1155/..
 
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