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Molecular Genetics & Genomic Medicine|September 20, 2020
Analysis of CNVs of CFTR gene in Chinese Han population with CBAVDChengquan Ma, Ruyi Wang, Tengyan Li, et al.
Molecular Genetics & Genomic Medicine|September 22, 2020
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohortYang Liu, Jie Zheng, Nan Liu, et al.
Molecular Genetics & Genomic Medicine|September 14, 2020
Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1Krister W Fjermestad, Øivind Kanavin, Livø Nyhus, et al.
Molecular Genetics & Genomic Medicine|September 15, 2020
The single nucleotide variant at c.662A>G in human RRM2B is a loss-of-function mutationYen-Tzu Tseng, Shang-Wei Li, Wei-Chun HuangFu, et al.
Molecular Genetics & Genomic Medicine|September 15, 2020
NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patientMarisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, et al.
Molecular Genetics & Genomic Medicine|December 15, 2020
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implicationsMałgorzata Rydzanicz, Pawel Olszewski, Darek Kedra, et al.
Molecular Genetics & Genomic Medicine|January 12, 2021
The association of lncRNA SNPs and SNPs-environment interactions based on GWAS with HBV-related HCC risk and progressionQing Liu, Guiyan Liu, Zhifeng Lin, et al.
Molecular Genetics & Genomic Medicine|January 6, 2021
H19 gene polymorphisms and Wilms tumor risk in Chinese children: a four-center case-control studyWenya Li, Rui-Xi Hua, Mi Wang, et al.
Molecular Genetics & Genomic Medicine|December 28, 2020
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype studyVera Uliana, Paola Sebastio, Matteo Riva, et al.
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