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Author/Creator Delobel, Bruno

1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018)

Authors:
Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
85
Record Type:
Journal Article
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2. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Issue 2 (11th November 2022)

Authors:
Jacquin, Clémence; Landais, Emilie; Poirsier, Céline; Afenjar, Alexandra; Akhavi, Ahmad; Bednarek, Nathalie; Bénech, Caroline; Bonnard, Adeline; Bosquet, Damien; Burglen, Lydie; Callier, Patrick; Chantot‐Bastaraud, Sandra; Coubes, Christine; Coutton, Charles; Delobel, Bruno; Descharmes, Margaux; ...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
445
Record Type:
Journal Article
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4. 3D Quantification of Microstructural Properties of LiNi0.5Mn0.3Co0.2O2 High‐Energy Density Electrodes by X‐Ray Holographic Nano‐Tomography. Issue 8 (20th January 2021)

Authors:
Nguyen, Tuan‐Tu; Villanova, Julie; Su, Zeliang; Tucoulou, Rémi; Fleutot, Benoît; Delobel, Bruno; Delacourt, Charles; Demortière, Arnaud
Journal:
Advanced energy materials
Issue:
Volume 11:Issue 8(2021)
Page Start:
n/a
Record Type:
Journal Article
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5. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Issue 10 (10th October 2012)

Authors:
Zufferey, Flore; Sherr, Elliott H; Beckmann, Noam D; Hanson, Ellen; Maillard, Anne M; Hippolyte, Loyse; Macé, Aurélien; Ferrari, Carina; Kutalik, Zoltán; Andrieux, Joris; Aylward, Elizabeth; Barker, Mandy; Bernier, Raphael; Bouquillon, Sonia; Conus, Philippe; Delobel, Bruno; Faucett, W Andrew; Go...
Other Names:
Addor Marie Claude author non-byline.; Arveiler Benoit author non-byline.; Belfiore Marco author non-byline.; Bena Frédérique author non-byline.; Bernardini Laura author non-byline.; Blanchet Patricia author non-byline.; Bonneau Dominique author non-byline.; Boute Odile author non-byline.; Callie...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 10(2012)
Page Start:
660
Record Type:
Journal Article
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8. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. Issue 12 (27th November 2012)

Authors:
Gordon, Christopher T; Petit, Florence; Oufadem, Myriam; Decaestecker, Charles; Jourdain, Anne-Sophie; Andrieux, Joris; Malan, Valérie; Alessandri, Jean-Luc; Baujat, Geneviève; Baumann, Clarisse; Boute-Benejean, Odile; Caumes, Roseline; Delobel, Bruno; Dieterich, Klaus; Gaillard, Dominique; Gonza...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 12(2012)
Page Start:
737
Record Type:
Journal Article
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