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Material Type: 報告
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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.(Phe70Serfs5)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, 2023, Vol.14, p.1171822-1171822可取得全文 |
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2 |
Material Type: 報告
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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, Vol.188 (12), p.3540-3545可取得全文 |
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3 |
Material Type: 報告
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Atypical Presentation of Testicular Adrenal Rest Tumor (TART) Leading to Bilateral Partial Orchiectomy in a 31-Year-Old Adult Revealing Primary Adrenal Insufficiency with CYP11A1 DeficiencyGarcia, Cyril ; Dusaud, Marie ; Chiron, Paul ; Sollier, Mathilde ; Nassouri, Sika ; Groussin, Lionel ; Sibony, Mathilde ; Goursaud, Claire ; Roucher-Boulez, Florence ; Bordier, LyseCase reports in endocrinology, 2021, Vol.2021, p.5889007-5889007可取得全文 |
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4 |
Material Type: 報告
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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, 2019, Vol.10, p.625-625可取得全文 |
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5 |
Material Type: 報告
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Digestive protein loss from an ileal multifocal stromal tumorOuzzif, Amina ; Seddik, Hassan ; Boulez, Jean ; Scoazec, Jean-Yves ; Lapalus, Marie-GeorgeGastroenterologie clinique et biologique, 2005, Vol.29 (10), p.1066-1068可取得全文 |
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6 |
Material Type: 報告
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Complete response of an HIV negative gastric Kaposi's sarcoma (KS) patient with peritoneal carcinomatosis by liposomal daunorubicin treatmentFléchon, A. ; Lombard-Bohas, C. ; Boulez, J. ; Blay, J.-Y. ; Scoazec, J.-Y.Annals of Oncology, 2001, Vol.12 (2), p.275-276可取得全文 |