Lin Li

发表

No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients

N. Hattori, H. Yoshino, Y. Mizuno, 2010, Neuroscience Letters.

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family

Lan Lan, Fengyun Wang, Lin Li, 2015, Molecular vision.

LRRK2 P755L variant in sporadic Parkinson's disease

N. Hattori, H. Yoshino, I. Mizuta, 2008, Journal of Human Genetics.

PLA2G6 variant in Parkinson's disease

N. Hattori, H. Yoshino, K. Ogaki, 2011, Journal of Human Genetics.

Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.

Y. Gong, Jiangxia Li, Qiji Liu, 2012, Gene.

Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma.

Y. Gong, Jiangxia Li, Qiji Liu, 2012, Genetic testing and molecular biomarkers.

Novel biallelic mutations in PADI6 in patients with early embryonic arrest

Zheng Yan, Qing Sang, Lei Wang, 2022, Journal of Human Genetics.

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

Y. Gong, C. Shao, X. Bian, 2014, European Journal of Human Genetics.

Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients★

K. Xia, Zhengmao Hu, B. Tang, 2012, Neural regeneration research.

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease

N. Hattori, H. Yoshino, M. Funayama, 2014, Neurobiology of Aging.

Long-term follow-up of an Alport syndrome patient with a novel mutation of COL 4 A 5

K. Xia, R. Xiang, L. Fan, 2017 .