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Author/Creator De Pontual, Loïc

1. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations. Issue 5 (4th October 2018)

Authors:
Allach El Khattabi, Laïla; Heide, Solveig; Caberg, Jean-Hubert; Andrieux, Joris; Doco Fenzy, Martine; Vincent-Delorme, Caroline; Callier, Patrick; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Boute-Benejean, Odile; Cordier, Marie Pierre; Faivre, Laurence; Francannet, Christine; Gerard, Marion; ...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 5(2020)
Page Start:
301
Record Type:
Journal Article
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2. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review. (2nd April 2015)

Authors:
El Khattabi, Laïla; Jaillard, Sylvie; Andrieux, Joris; Pasquier, Laurent; Perrin, Laurence; Capri, Yline; Benmansour, Abdelmadjid; Toutain, Annick; Marcorelles, Pascale; Vincent‐Delorme, Catherine; Journel, Hubert; Henry, Catherine; De Barace, Claire; Devisme, Louise; Dubourg, Christèle; Demurger...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 6(2015:Jun.)
Page Start:
1252
Record Type:
Journal Article
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3. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Issue 5 (7th March 2022)

Authors:
Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Romanelli Tavares, Vanessa L.; Moisset, Hugo; Zechi‐Ceide, Roseli; Kokitsu‐Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Gherbi Halem, Souad; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Dap...
Journal:
Human mutation
Issue:
Volume 43:Issue 5(2022)
Page Start:
582
Record Type:
Journal Article
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4. Imported Schistosomiasis in Children: Clinical, Diagnostic Aspects And Outcome in 5 Tertiary Hospitals in France. Issue 12 (December 2017)

Authors:
Leblanc, Claire; Pham, Luu-ly; Mariani, Patricia; Titomanlio, Luigi; El Ghoneimi, Alaa; Paris, Luc; Escoda, Simon; Lottmann, Henri; Toubiana, Julie; Paugam, André; Ulinski, Tim; Bouchaud, Olivier; Brun, Sophie; Izri, Arezki; Faye, Albert; De Pontual, Loïc
Journal:
Pediatric infectious disease journal
Issue:
Volume 36:Issue 12(2017)
Page Start:
Record Type:
Journal Article
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5. Multiplex PCR reveals a high prevalence of multiple pathogens in traveller's diarrhoea in children. Issue 2 (22nd February 2019)

Authors:
Pouletty, Marie; De Pontual, Loïc; Lopez, Moreen; Morin, Laurence; Poilane, Isabelle; Pham, Luu Ly; Carbonnelle, Etienne; Titomanlio, Luigi; Faye, Albert; Bonacorsi, Stéphane
Journal:
Archives of disease in childhood
Issue:
Volume 104:Issue 2(2019)
Page Start:
141
Record Type:
Journal Article
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6. Multiplex PCR reveals a high prevalence of multiple pathogens in traveller's diarrhoea in children. Issue 2 (7th July 2018)

Authors:
Pouletty, Marie; De Pontual, Loïc; Lopez, Moreen; Morin, Laurence; Poilane, Isabelle; Pham, Luu Ly; Carbonnelle, Etienne; Titomanlio, Luigi; Faye, Albert; Bonacorsi, Stéphane
Journal:
Archives of disease in childhood
Issue:
Volume 104:Issue 2(2019)
Page Start:
141
Record Type:
Journal Article
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