Suchergebnisse - "Li, Jiankang"

PubPharm (4)

1

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

enthalten in: American journal of human genetics | 2021

von Richard, E. | Bakhtiari, S. | Marsh, A. | +98

2

A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy

enthalten in: Molecular genetics & genomic medicine | 2019

von Li, W. | Wang, Z. | Sun, Y. | +7

3

Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome : An efficient and cost‑effective method

enthalten in: Molecular medicine reports | 2017

von Huang, T. | Yang, G. | Dang, X. | +5

4

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

enthalten in: BMC medical genetics | 2015

von Mancini, C. | Orsi, L. | Guo, Y. | +22

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