| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
Material Type: 期刊文獻
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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variantsMazel, Benoit ; Mallet, Delphine ; Roucher‐Boulez, Florence ; Signor, Candace Ben ; Bournez, Marie ; Darmency, Véronique ; Bourgeois, Valentin ; Poe, Charlotte ; El Khabbaz, Fares ; Vitobello, Antonio ; Philippe, Christophe ; Duffourd, Yannis ; Thauvin‐Robinet, Christel ; Faivre, Laurence ; Nambot, SophieAmerican journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3540-3545 [同儕審閱期刊]可取得全文 |
| 2 |
Material Type: 期刊文獻
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Laparoscopic pancreatic resection: Results of a multicenter European study of 127 patientsMabrut, Jean-Yves ; Fernandez-Cruz, Laureano ; Azagra, Juan Santiago ; Bassi, Claudio ; Delvaux, Georges ; Weerts, Joseph ; Fabre, Jean-Michel ; Boulez, Jean ; Baulieux, Jacques ; Peix, Jean-Louis ; Gigot, Jean-François ; Member Group, under the auspices of the Hepatobiliary and Pancreatic Section (HBPS) of the Royal Belgian Society of Surgery, the Belgian Group for Endoscopic Surgery (BGES) and the Club CoelioSurgery, 2005-06, Vol.137 (6), p.597-605 [同儕審閱期刊]可取得全文 |
| 3 |
Material Type: 期刊文獻
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Laparoscopic Repair of Large Hiatal Hernia Without Prosthetic Reinforcement: Late Results and Relevance of Anterior GastropexyPoncet, Gilles ; Robert, Maud ; Roman, Sabine ; Boulez, Jean-ClaudeJournal of gastrointestinal surgery, 2010-12, Vol.14 (12), p.1910-1916 [同儕審閱期刊]可取得全文 |
| 4 |
Material Type: 期刊文獻
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Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonationLucas, Cécily ; Sauter, Kay-Sara ; Steigert, Michael ; Mallet, Delphine ; Wilmouth, James ; Olabe, Julie ; Plotton, Ingrid ; Morel, Yves ; Aeberli, Daniel ; Wagner, Franca ; Clevers, Hans ; Pandey, Amit V ; Val, Pierre ; Roucher-Boulez, Florence ; Flück, Christa EThe Journal of clinical investigation, 2023-02, Vol.133 (4), p.1-10 [同儕審閱期刊]可取得全文 |
| 5 |
Material Type: 期刊文獻
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Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 ( DAX1 ) Pathogenic VariantsTeoli, Jordan ; Mezzarobba, Vincent ; Renault, Lucie ; Mallet, Delphine ; Lejeune, Hervé ; Chatelain, Pierre ; Tixier, Frédérique ; Nicolino, Marc ; Peretti, Noël ; Giscard D'estaing, Sandrine ; Cuzin, Béatrice ; Dijoud, Frédérique ; Roucher-Boulez, Florence ; Plotton, IngridFrontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.855082-855082 [同儕審閱期刊]可取得全文 |
| 6 |
Material Type: 期刊文獻
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A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysisRoucher Boulez, Florence ; Menassa, Rita ; Streichenberger, Nathalie ; Manel, Véronique ; Mallet-Motak, Delphine ; Morel, Yves ; Michel-Calemard, LaurenceClinica chimica acta, 2015-08, Vol.448, p.146-149 [同儕審閱期刊]可取得全文 |
| 7 |
Material Type: 期刊文獻
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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case reportIughetti, Lorenzo ; Lucaccioni, Laura ; Bruzzi, Patrizia ; Ciancia, Silvia ; Bigi, Elena ; Madeo, Simona Filomena ; Predieri, Barbara ; Roucher-Boulez, FlorenceBMC medical genetics, 2019-06, Vol.20 (1), p.98-98, Article 98 [同儕審閱期刊]可取得全文 |
| 8 |
Material Type: 期刊文獻
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Statistical method to compare massive parallel sequencing pipelinesElsensohn, M H ; Leblay, N ; Dimassi, S ; Campan-Fournier, A ; Labalme, A ; Roucher-Boulez, F ; Sanlaville, D ; Lesca, G ; Bardel, C ; Roy, PBMC bioinformatics, 2017-03, Vol.18 (1), p.139-139, Article 139 [同儕審閱期刊]可取得全文 |
| 9 |
Material Type: 期刊文獻
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Neonatal salt wasting syndrome: Aldosterone synthase deficiency caused by a new splicing variant in CYP11B2Gerard, Rémy ; Sauvestre, Clément ; Barat, Pascal ; Harambat, Jérôme ; Janot, Clément ; Mallet, Delphine ; Roucher-Boulez, Florence ; Allard, LiseArchives de pédiatrie : organe officiel de la Société française de pédiatrie, 2024-02, Vol.31 (2), p.157-160 [同儕審閱期刊]可取得全文 |
| 10 |
Material Type: 期刊文獻
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Results of laparoscopic Heller myotomy without anti-reflux procedure in achalasia. Monocentric prospective study of 106 casesRobert, M. ; Poncet, G. ; Mion, F. ; Boulez, J.Surgical endoscopy, 2008-04, Vol.22 (4), p.866-874 [同儕審閱期刊]可取得全文 |
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