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Orphanet Journal of Rare Diseases|February 9, 2024
Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal ageYunyun Liu, Sha Liu, Jianlong Liu, et al.
Orphanet Journal of Rare Diseases|March 14, 2024
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North AfricaSaif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, et al.
Orphanet Journal of Rare Diseases|March 14, 2024
Lymphatic drainage of sinonasal malignancies and the role of sentinel node biopsiesFatemeh Kashani, B G Weiss, P Bartenstein, et al.
Orphanet Journal of Rare Diseases|February 16, 2024
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysisJing Ma, Huiqiu Zhang, Feng Liang, et al.
Orphanet Journal of Rare Diseases|February 15, 2024
Psychotic illness in people with Prader-Willi syndrome: a systematic review of clinical presentation, course and phenomenologyLucie C S Aman, Suzannah D Lester, Anthony J Holland, et al.
Orphanet Journal of Rare Diseases|February 20, 2024
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defectsAmanda Nagy, Francine Molay, Sarah Hargadon, et al.
Orphanet Journal of Rare Diseases|February 26, 2024
Updates on the role of epigenetics in familial mediterranean fever (FMF)Ahlam Chaaban, Zeina Salman, Louna Karam, et al.
Orphanet Journal of Rare Diseases|February 25, 2024
The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of IrelandSophie Thomas, Alexandra Morrison, Georgina Morton, et al.
Orphanet Journal of Rare Diseases|February 25, 2024
Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-beingLeisha Devisetti
Orphanet Journal of Rare Diseases|February 25, 2024
Clinical efficacy of metformin in familial adenomatous polyposis and the effect of intestinal floraLinxin Zhou, Linfu Zheng, Binbin Xu, et al.
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