Lv2
110 积分 2024-01-19 加入
Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy
28天前
已完结
Congenital cardiac disease as a core feature of cranio-osteoarthropathy
2个月前
已关闭
A small deletion of 16q23.1→16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348−, P5432+)] in a boy with iris coloboma and minor anomalies
2个月前
已完结
Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome
3个月前
已关闭
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
4个月前
已完结
Comment on “CO2 as oxidant: an unusual light-assisted catalyst free oxidation of aldehydes to acids under mild conditions” by S. R. Khan, S. Saini, K. Naresh, A. Kumari, V. Aniya, P. K. Khatri, A. Ray and S. L. Jain, Chem. Commun., 2022, 58, 2208
5个月前
已完结
Reply to the ‘Comment on “CO2 as oxidant: an unusual light-assisted catalyst free oxidation of aldehydes to acids under mild conditions”’ by S. R. Khan, S. Saini, K. Naresh, A. Kumari, V. Aniya, P. K. Khatri, A. Ray and S. L. Jain, Chem. Commun., 2022, 58, 2208
5个月前
已完结
Clinical and genetic characterization of pediatric patients with Wilson’s disease from Yunnan province where ethnic minorities gather
6个月前
已完结
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
8个月前
已完结
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