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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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8 |
Material Type: 期刊文獻
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Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Ser fs 5)Teoli, Jordan ; Mallet, Delphine ; Renault, Lucie ; Gay, Claire-Lise ; Labrune, Elsa ; Bretones, Patricia ; Giscard D'Estaing, Sandrine ; Cuzin, Béatrice ; Dijoud, Frédérique ; Roucher-Boulez, Florence ; Plotton, IngridFrontiers in endocrinology (Lausanne), 2023-06, Vol.14, p.1171822 [同儕審閱期刊]可取得全文 |
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9 |
Material Type: 期刊文獻
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Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in AlgeriaLadjouze, Asmahane ; Donaldson, Malcolm ; Plotton, Ingrid ; Djenane, Nacima ; Mohammedi, Kahina ; Tardy-Guidollet, Véronique ; Mallet, Delphine ; Boulesnane, Kamélia ; Bouzerar, Zair ; Morel, Yves ; Roucher-Boulez, FlorenceFrontiers in endocrinology (Lausanne), 2022-06, Vol.13, p.867073-867073 [同儕審閱期刊]可取得全文 |
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10 |
Material Type: 期刊文獻
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Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo DisorderRoucher-Boulez, Florence ; Mallet, Delphine ; Chatron, Nicolas ; Dijoud, Frédérique ; Gorduza, Daniela Brindusa ; Bretones, Patricia ; Morel, YvesFrontiers in endocrinology (Lausanne), 2019-09, Vol.10 [同儕審閱期刊]可取得全文 |