Clinical characteristics, genomic profiling, treatments, and outcomes of Langerhans cell sarcoma [0.03%]
郎格汉斯细胞肉瘤的临床特征、基因组谱型、治疗和结局
Min Lang,Xiao-Juan Zheng,Long Chang et al.
Min Lang et al.
Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial [0.03%]
PKU携带者和非携带者的临床干预试验的设计及预实验结果：“Phe For Me”试验
Sophia M Khan,Madison L Fennell,Mazyar Fallah et al.
Sophia M Khan et al.
Background: Phenylketonuria (PKU) is an autosomal recessive genetic condition caused by a PAH gene mutation that results in impaired function of the phenylalanine hydroxylase (PAH) pathway. Thus, L-phenylalanine (Phe) can...
Decoding rare inherited metabolic disorders: advancing precision in screening and diagnosis [0.03%]
解码罕见遗传性代谢病：推进筛查和诊断精准性
Muhammad Wasim,Haq Nawaz Khan,Yajun Wang et al.
Muhammad Wasim et al.
Epidemiology of idiopathic pulmonary fibrosis: a population registry-based study [0.03%]
特发性肺纤维化流行病学研究：基于人群登记数据库的研究
Gorini Francesca,Santoro Michele,Pierini Anna et al.
Gorini Francesca et al.
Florian B Lagler,Thomas Scherer,Jörg Weber et al.
Florian B Lagler et al.
Background: Follow-up assessments form the basis for the continuous optimization of therapy and supportive care on an individual level, for confirming treatment efficacy, and for detecting newly emerging or unexpectedly p...
Functional skills in MECP2 duplication syndrome: developmental dynamics and regression [0.03%]
MECP2重复综合征的功能技能：发育动力学和倒退
Daniel Ta,Jenny Downs,Gareth Baynam et al.
Daniel Ta et al.
MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, r...
Shan Tang,Wei Hou,Haitian Yu et al.
Shan Tang et al.
Seropositive rheumatoid arthritis in osteogenesis imperfecta type XI (FKBP10 mutation): first case report and literature review [0.03%]
成骨不全症第XI型合并类风湿关节炎首例报告及文献复习
Anas Manhal,Jamal Abdallah,Mahmoud M Qouqas et al.
Anas Manhal et al.
Background: Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in genes involved in type I collagen production. We report a 27-year-old female with genetically confirmed OI type XI (OI-X...
Novel GJC2 and OBSCN variants co-segregating in a Chinese primary lymphedema pedigree [0.03%]
中国原发性淋巴水肿家系中新型GJC2和OBSCN变异共分离
Xiaoqian Shi,Gang Wang,Shang Ju et al.
Xiaoqian Shi et al.
Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study [0.03%]
NF1患者分段性肢体过度生长的患病率和管理：一项观察性研究
Claudia Santoro,Gabriele Martin,Gianluca Conza et al.
Claudia Santoro et al.