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1
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants
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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

Mazel, 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, Sophie

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3540-3545 [同儕審閱期刊]

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2
Laparoscopic Repair of Large Hiatal Hernia Without Prosthetic Reinforcement: Late Results and Relevance of Anterior Gastropexy
Laparoscopic Repair of Large Hiatal Hernia Without Prosthetic Reinforcement: Late Results and Relevance of Anterior Gastropexy
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Laparoscopic Repair of Large Hiatal Hernia Without Prosthetic Reinforcement: Late Results and Relevance of Anterior Gastropexy

Poncet, Gilles ; Robert, Maud ; Roman, Sabine ; Boulez, Jean-Claude

Journal of gastrointestinal surgery, 2010-12, Vol.14 (12), p.1910-1916 [同儕審閱期刊]

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3
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 ( DAX1 ) Pathogenic Variants
Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 ( DAX1 ) Pathogenic Variants
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Effect of Recombinant Gonadotropin on Testicular Function and Testicular Sperm Extraction in Five Cases of NR0B1 ( DAX1 ) Pathogenic Variants

Teoli, 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, Ingrid

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.855082-855082 [同儕審閱期刊]

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4
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis
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A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis

Roucher Boulez, Florence ; Menassa, Rita ; Streichenberger, Nathalie ; Manel, Véronique ; Mallet-Motak, Delphine ; Morel, Yves ; Michel-Calemard, Laurence

Clinica chimica acta, 2015-08, Vol.448, p.146-149 [同儕審閱期刊]

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5
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
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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 report

Iughetti, Lorenzo ; Lucaccioni, Laura ; Bruzzi, Patrizia ; Ciancia, Silvia ; Bigi, Elena ; Madeo, Simona Filomena ; Predieri, Barbara ; Roucher-Boulez, Florence

BMC medical genetics, 2019-06, Vol.20 (1), p.98-98, Article 98 [同儕審閱期刊]

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6
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Ser fs 5)
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Ser fs 5)
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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, Ingrid

Frontiers in endocrinology (Lausanne), 2023-06, Vol.14, p.1171822 [同儕審閱期刊]

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7
Results of laparoscopic Heller myotomy without anti-reflux procedure in achalasia. Monocentric prospective study of 106 cases
Results of laparoscopic Heller myotomy without anti-reflux procedure in achalasia. Monocentric prospective study of 106 cases
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Results of laparoscopic Heller myotomy without anti-reflux procedure in achalasia. Monocentric prospective study of 106 cases

Robert, M. ; Poncet, G. ; Mion, F. ; Boulez, J.

Surgical endoscopy, 2008-04, Vol.22 (4), p.866-874 [同儕審閱期刊]

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8
Achalasia-Like Disorder After Laparoscopic Adjustable Gastric Banding: a Reversible Side Effect?
Achalasia-Like Disorder After Laparoscopic Adjustable Gastric Banding: a Reversible Side Effect?
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Achalasia-Like Disorder After Laparoscopic Adjustable Gastric Banding: a Reversible Side Effect?

Robert, M. ; Golse, N. ; Espalieu, P. ; Poncet, G. ; Mion, F. ; Roman, S. ; Boulez, J. ; Gouillat, C.

Obesity surgery, 2012-05, Vol.22 (5), p.704-711 [同儕審閱期刊]

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9
Laparoscopic Gastric Bypass for Failure of Adjustable Gastric Banding: A Review of 85 Cases
Laparoscopic Gastric Bypass for Failure of Adjustable Gastric Banding: A Review of 85 Cases
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Laparoscopic Gastric Bypass for Failure of Adjustable Gastric Banding: A Review of 85 Cases

Robert, Maud ; Poncet, Gilles ; Boulez, Jean ; Mion, François ; Espalieu, Philippe

Obesity surgery, 2011-10, Vol.21 (10), p.1513-1519 [同儕審閱期刊]

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10
Impaired postoperative EGJ relaxation as a determinant of post laparoscopic fundoplication dysphagia: a study with high-resolution manometry before and after surgery
Impaired postoperative EGJ relaxation as a determinant of post laparoscopic fundoplication dysphagia: a study with high-resolution manometry before and after surgery
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Impaired postoperative EGJ relaxation as a determinant of post laparoscopic fundoplication dysphagia: a study with high-resolution manometry before and after surgery

Marjoux, Sophie ; Roman, Sabine ; Juget-Pietu, Florence ; Robert, Maud ; Poncet, Gilles ; Boulez, Jean ; Mion, François

Surgical endoscopy, 2012-12, Vol.26 (12), p.3642-3649 [同儕審閱期刊]

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