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Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Am J Med Genet A. 2015 Jul;167(7):1587-92. doi: 10.1002/ajmg.a.36898. Epub 2015 Apr 21.
Am J Med Genet A. 2015.
PMID: 25899569
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L.
Bourchany A, et al.
Eur J Med Genet. 2017 Nov;60(11):595-604. doi: 10.1016/j.ejmg.2017.08.011. Epub 2017 Aug 12.
Eur J Med Genet. 2017.
PMID: 28807864
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A.
Esteve C, et al. Among authors: bourchany a.
Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8.
Am J Hum Genet. 2018.
PMID: 29429573
Free PMC article.
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Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière JB, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner AS, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel JL, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, El Chehadeh S.
Miguet M, et al. Among authors: bourchany a.
Prenat Diagn. 2016 Dec;36(13):1276-1279. doi: 10.1002/pd.4965. Epub 2016 Dec 2.
Prenat Diagn. 2016.
PMID: 27862069
No abstract available.
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Optimization of biologics to reduce treatment failure in inflammatory bowel diseases.
Bourchany A, Gilletta De Saint-Joseph C, Breton A, Barreau F, Mas E.
Bourchany A, et al.
Curr Opin Pharmacol. 2020 Oct;54:51-58. doi: 10.1016/j.coph.2020.07.012. Epub 2020 Sep 15.
Curr Opin Pharmacol. 2020.
PMID: 32947075
Review.
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[Infant gastroesophageal reflux disease: physiological or pathological ?].
Bourchany A, Mas E.
Bourchany A, et al.
Rev Prat. 2022 Oct;72(8):899-902.
Rev Prat. 2022.
PMID: 36511995
French.
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