Results 211 to 220 of about 1,144,164 (329)

Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study. [PDF]

Hum Genomics
Chu AT, Sze SY, Tse DM, Lai CW, Ng CS, Yu CW, Chung PH, Pang FC, Chung BH, Lo SV, Quan J.   +10 more
europepmc   +1 more source

GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. [PDF]

Front Genet, 2020
Guerra-Assunção JA, Conde L, Moghul I, Webster AP, Ecker S, Chervova O, Chatzipantsiou C, Prieto PP, Beck S, Herrero J.   +9 more
europepmc   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project. [PDF]

Lancet Reg Health West Pac
Lam WKJ, Lau CS, Luk HM, Au LWC, Chan GCP, Chan WYH, Cheng SSW, Cheng THT, Cheung LL, Cheung YF, Chong JSC, Chu ATW, Chung CCY, Chung KL, Fung CW, Fung ELW, Gao Y, Ho S, Hue SPY, Lee CH, Lee TL, Li PH, Lo HM, Man Lo IF, Loong HHF, Ma BM, Ma W, Pang SYY, Seto WK, Siu SWK, So H, Tam YH, Tang W, Wong RMS, Yap DYH, Yau MLY, Chung BHY, Lo SV, Hong Kong Genome Project.   +38 more
europepmc   +1 more source

Korean Genome Project: 1094 Korean personal genomes with clinical information. [PDF]

Sci Adv, 2020
Jeon S, Bhak Y, Choi Y, Jeon Y, Kim S, Jang J, Jang J, Blazyte A, Kim C, Kim Y, Shim J, Kim N, Kim YJ, Park SG, Kim J, Cho YS, Park Y, Kim HM, Kim BC, Park NH, Shin ES, Kim BC, Bolser D, Manica A, Edwards JS, Church G, Church G, Lee S, Bhak J.   +28 more
europepmc   +1 more source

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public [PDF]

, 2018
Project MinE ALS Sequencing Consortium, Project MinE ALS Sequencing Consortium   +1 more
openalex   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source

Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project. [PDF]

Hum Genet
Ying D, Kwok JSL, Chu ATW, Ma W, Tam HYF, Or D, Hue SPY, Hong Kong Genome Project, Li Q, Leung CKS, Chung BHY.   +10 more
europepmc   +1 more source

The emergence of commercial genomics: analysis of the rise of a biotechnology subsector during the Human Genome Project, 1990 to 2004 [PDF]

, 2013
Ilse R. Wiechers, Noah C. Perin, Robert Cook‐Deegan   +2 more
openalex   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source