Results 131 to 140 of about 55,874 (244)

Platypnea-orthodeoxia syndrome treated by percutaneous patent foramen ovale closure: a case report and review of the literature

Journal of Medical Case Reports
Background Platypnea-orthodeoxia syndrome is a rare but striking clinical syndrome, usually characterized by dyspnea and hypoxemia in the upright position, which is relieved by recumbency. However, the exact prevalence remains unknown.
Ziyang Hu, Zhiyong Huang, Yongxin Huang, Guoqiang Huang, Xueshan Li, Kaixuan Lin, Caojin Zhang   +6 more
doaj   +1 more source

Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study describes the first reported case of concurrent sitosterolemia (STSL) and nephronophthisis (NPHP). Additionally, we provide a systematic review of the clinical and genetic characteristics of Chinese STSL patients, representing the largest comprehensive cohort in China to date.
Dan Ding, Hongmei Wu, Fei Zhao, Bixia Zheng, Qiuxia Chen   +4 more
wiley   +1 more source

14 mai 2024 - Pour se coucher tranquille... Bien préparer sa soutenance!

Chères Ovaliennes, chers Ovaliens, La prochaine (et dernière !) séance d'Ovale aura lieu le mardi 14 mai à 18h en salle D513 à la Maison de la Recherche. Nous y écouterons Emma Bartel pour une séance pratique sur la soutenance de thèse.
ovale
core   +1 more source

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan, Ying Chen, Tianyu Zhang, Jing Ma   +3 more
wiley   +1 more source

13 décembre 2022 - Au lit! mais avant, son CV académique

, 2022
Le 13 décembre à 18h00 en salle S001 (Serpentes) nous nous retrouverons pour la première séance officielle de l'année! Au programme, le lit, le coucher, le dodo...
ovale
core  

foramen ovale

Citation: 'foramen ovale' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10737 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source

Congenital heart disease in pregnancy and severe maternal morbidity: A distributed data network study

Pregnancy, Volume 2, Issue 5, September 2026.
Abstract Introduction Pregnant people with congenital heart disease (CHD) are a growing patient population in obstetrics, yet evidence on the risk for severe maternal morbidity (SMM) has largely been limited to studies that lack specificity for CHD. We conducted this study to demonstrate the utility of distributed data networks for obstetric research ...
Elizabeth B. Sherwin, Benjamin Martin, Xiao Xu, Anna Booman, Alyssa Howren, Kimberlee McKay, Sadaf Kazi, Sean O'Reilly, Katie S. Kolla, Khyzer Aziz, Katherine Bianco, Stephanie A. Leonard   +11 more
wiley   +1 more source

Mercredi 07 Février 2024 - Au lit à l'étranger!

Chère Ovaliennes, chers Ovaliens, Nous avons le plaisir de vous convier à la prochaine séance d'Ovale en salle D224 de la Maison de la Recherche à 18h. Nous accueillerons Charlotte Ribeyrol qui nous parlera des opportunités de mobilités internationales ...
ovale
core   +1 more source

Patent foramen ovale: clinical manifestations and treatment. [PDF]

, 2008
A persistent patent foramen ovale produces an intermittent intra-atrial right-to-left shunt and occurs in approximately 25% of the general population. Although the vast majority of people with patent foramen ovale are asymptomatic, a patent foramen ovale
Kedia, Gautam, Tobis, Jonathan, Lee, Michael S   +2 more
core  

S1‐Leitlinie Schweißdrüsenkarzinom

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 9, Page 1356-1384, September 2026.
Zusammenfassung Die aktuelle Einteilung der Schweißdrüsenkarzinome erfolgt nach histomorphologischen Charakteristika und unterscheidet mehr als 20 Entitäten. Es sind meist Patienten höheren, bei einigen Subtypen aber auch mittleren und jüngeren, Lebensalters betroffen. Die Mehrheit der Tumoren entsteht de novo.
Mirjana Ziemer, Michael Erdmann, Abbas Agaimy, Jürgen C. Becker, Almut Böer‐Auer, Doris Helbig, Cornelia Erfurt‐Berge, Alexander Frisman, Conrad Hempel, Ulrike Leiter, Friedegund Meier, Thomas Mentzel, Lara Racz, Silke Redler, Stefan Schliep, Clemens Seidel, Alpaslan Tasdogan, Jochen Utikal, Carsten Weishaupt, Selma Ugurel   +19 more
wiley   +1 more source