日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients

早期间质性肺疾病的分子检测:来自 699 例无关患者的结果

Louvrier, Camille; Nathan, Nadia; Cottin, Vincent; Desroziers, Tifenn; Nau, Valérie; Soreze, Yohan; Dastot-Le Moal, Florence; Reix, Philippe; Bouvry, Diane; Thumerelle, Caroline; Reynaud-Gaubert, Martine; Hadchouel, Alice; Prévot, Grégoire; Manali, Effrosyni; Kannengiesser, Caroline; Ba, Ibrahima; Amselem, Serge; Houdouin, Véronique; Borie, Raphaël; Legendre, Marie

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

儿童间质性肺病中的双等位基因 LAMP3 变异:一种与表面活性剂相关的疾病

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Persistent tachypnoea of infancy and neuroendocrine cell hyperplasia of infancy: from systematic review to future directions

婴儿持续性呼吸急促和婴儿神经内分泌细胞增生:从系统综述到未来方向

Nathan, Nadia; Grochowska, Magdalena; Krenke, Katarzyna; Epaud, Ralph; Reix, Philippe; Griese, Matthias; Louvrier, Camille; Soreze, Yohan; Mulard, Cécile; Donnet, Barbara; Ducou le Pointe, Hubert; Dufour-Barba, Clémence; Coulomb l'Herminé, Aurore; Dubus, Jean-Christophe; Marczak, Honorata

Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature

马蹄肺的产前诊断:三例报告及文献复习

Birene, Benjamin; Maurice, Paul; Garel, Catherine; Prevost, Blandine; Soreze, Yohan; Chabaud, Maud; Jouannic, Jean-Marie

Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease.

破译三种 NKX2-1 变体在儿童间质性肺病超重症中的致病性。

Soreze Yohan David, Desroziers-Louedec Tifenn, Carré Aurore, Diab Farah, Daskalopoulou Aphrodite, Starck Julie, Nau Valérie, Legendre Marie, Karabina Sonia-Athina, Houdouin Véronique, Coulomb-L'herminé Aurore, Louvrier Camille, Nathan Nadia

Sevoflurane Sedation with AnaConDa-S Device for a Child Undergoing Extracorporeal Membrane Oxygenation

使用 AnaConDa-S 装置对接受体外膜肺氧合治疗的儿童进行七氟醚镇静

Soreze, Yohan; Piloquet, Jean-Eudes; Amblard, Alain; Constant, Isabelle; Rambaud, Jérôme; Leger, Pierre-Louis

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

人类脂酰转移酶基因 LIPT1 的突变会导致莱氏病,并伴有丙酮酸和α-酮戊二酸脱氢酶的继发性缺乏。

Soreze, Yohan; Boutron, Audrey; Habarou, Florence; Barnerias, Christine; Nonnenmacher, Luc; Delpech, Hélène; Mamoune, Asmaa; Chrétien, Dominique; Hubert, Laurence; Bole-Feysot, Christine; Nitschke, Patrick; Correia, Isabelle; Sardet, Claude; Boddaert, Nathalie; Hamel, Yamina; Delahodde, Agnès; Ottolenghi, Chris; de Lonlay, Pascale