Showing results (1381-1390 of 4,782) with videos related to

Sort By:
Pageof 479
Orphanet Journal of Rare Diseases|October 10, 2021
Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancyChang Ho Shin, Chaemoon Lim, Hwa Young Kim, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational studyGemma Marcucci, Paola Altieri, Salvatore Benvenga, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoriaLiping Hou, Ming Zhao, Lijun Fan, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in ChinaJing Zhao, Kenneth D R Setchell, Ying Gong, et al.
Orphanet Journal of Rare Diseases|October 23, 2021
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohortAntonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, et al.
Orphanet Journal of Rare Diseases|October 24, 2021
Development of therapies for rare genetic disorders of GPX4: roadmap and opportunitiesDorian M Cheff, Alysson R Muotri, Brent R Stockwell, et al.
Orphanet Journal of Rare Diseases|October 27, 2021
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseasesLucie Isoline Pisella, Sara Fernandes, Guilhem Solé, et al.
Orphanet Journal of Rare Diseases|October 30, 2021
The role of estrogen deprivation therapy in premenopausal women with primary unresectable intracardiac leiomyomatosis: a systematic review and meta-analysisJinxiao Liang, Ruilin Lei, Mingwei Xie, et al.
Orphanet Journal of Rare Diseases|October 30, 2021
RaDiCo, the French national research program on rare disease cohortsSerge Amselem, Sonia Gueguen, Jérôme Weinbach, et al.
Orphanet Journal of Rare Diseases|October 30, 2021
Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case reportValeria Calcaterra, Luigi Chiricosta, Emanuela Mazzon, et al.
Pageof 479