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Year Number of Results
2002 1
2006 1
2007 3
2014 1
2015 1
2016 3
2017 3
2018 5
2019 6
2020 3
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2022 1
2023 2
2024 1

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26 results

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Page 1
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, W… See abstract for full author list ➔ van der Sluijs PJ, et al. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Genet Med. 2019. PMID: 30349098 Free PMC article.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
[Interpretation of fetal heart rate with a simple mnemonic].
Garabedian C, Berveiller P, Maisonneuve E. Garabedian C, et al. Gynecol Obstet Fertil Senol. 2020 Sep;48(9):627-628. doi: 10.1016/j.gofs.2019.09.009. Epub 2019 Sep 25. Gynecol Obstet Fertil Senol. 2020. PMID: 31562925 French. No abstract available.
Management of the child's airway under anaesthesia: The French guidelines.
Dadure C, Sabourdin N, Veyckemans F, Babre F, Bourdaud N, Dahmani S, Queiroz M, Devys JM, Dubois MC, Kern D, Laffargue A, Laffon M, Lejus-Bourdeau C, Nouette-Gaulain K, Orliaguet G, Gayat E, Velly L, Salvi N, Sola C. Dadure C, et al. Anaesth Crit Care Pain Med. 2019 Dec;38(6):681-693. doi: 10.1016/j.accpm.2019.02.004. Epub 2019 Feb 23. Anaesth Crit Care Pain Med. 2019. PMID: 30807876 Free article.
[Open letter to the French College of Physicians - place of the multidisciplinary Prenatal Diagnosis Centers in the treatment of fetal diseases].
Favre R, Jouannic JM, Laurichesse H, Oury JF, Vaast P, Benachi A; le Bureau de la Fédération des centres pluridisciplinaires de diagnostic prénatal (CPDPN). Favre R, et al. J Gynecol Obstet Biol Reprod (Paris). 2016 Nov;45(9):997-998. doi: 10.1016/j.jgyn.2016.09.005. Epub 2016 Oct 25. J Gynecol Obstet Biol Reprod (Paris). 2016. PMID: 27793491 French. No abstract available.
Elective abortion: Clinical practice guidelines from the French College of Gynecologists and Obstetricians (CNGOF).
Vayssière C, Gaudineau A, Attali L, Bettahar K, Eyraud S, Faucher P, Fournet P, Hassoun D, Hatchuel M, Jamin C, Letombe B, Linet T, Msika Razon M, Ohanessian A, Segain H, Vigoureux S, Winer N, Wylomanski S, Agostini A. Vayssière C, et al. Eur J Obstet Gynecol Reprod Biol. 2018 Mar;222:95-101. doi: 10.1016/j.ejogrb.2018.01.017. Epub 2018 Jan 31. Eur J Obstet Gynecol Reprod Biol. 2018. PMID: 29408754 Review.
Treatment with cyclosporin in auto-immune cytopenias in children: The experience from the French cohort OBS'CEREVANCE.
Penel Page M, Bertrand Y, Fernandes H, Kherfellah D, Leverger G, Leblanc T, Libbrecht C, Michel G, Jeziorski E, Armari-Alla C, Nelken B, Pellier I, Pasquet M, Perel Y, Aladjidi N. Penel Page M, et al. Am J Hematol. 2018 May 14. doi: 10.1002/ajh.25137. Online ahead of print. Am J Hematol. 2018. PMID: 29756344 Free article. No abstract available.
26 results