Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

by Ak, G., Cassidy, A.J, Çefle, K., Güllüoğlu, M.G, Koray, M., Kürklü, E., McLean, W.-H.-I, Öztürk, Ş, Palandüz, Ş, Tanyeri, H.
Published 2018

Function Analysis of the PR55/B Gene Related to Self-Incompatibility in Chinese Cabbage Using CRISPR/Cas9

by Kim, H.-S, Park, Y.-D, Shin, N.-R, Shin, Y.-H
Published 2022

A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation

by Cao, H., Dong, H., Dong, X., Ji, X., Liu, J., Luan, S., Tao, D., Wang, Q., Zhang, Q.
Published 2021

The role of BDNF exon I region methylation in the treatment of depression with sertraline and its clinical diagnostic value

by Cheng, J., Gao, S., Li, G., Sun, T., Xing, Y., Xu, G.
Published 2021

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing

by Hu, T., Liu, S., Wang, H., Xiang, Q., Xie, H., Xu, B., Yang, M.
Published 2021

Down-regulation of hsa_circ_0006470 predicts tumor invasion: A new biomarker of gastric cancer

by Xie, Y., Yao, L.
Published 2021

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing

by Javanshir, N., Nasirshalal, M., Panahi, M., Salmani, H.
Published 2021

Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy

by Cao, H., Dong, H., Ji, X., Luan, S., Wang, Z.
Published 2021

A novel WT1 gene mutation in a chinese girl with denys-drash syndrome

by Cai, J., Guan, Z., He, M., Jin, H., Li, L., Mao, J., Shu, Q., Wang, F., Wang, J., Zhao, M., Zhu, K.
Published 2021

Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)

by Bagherian, H., Ghadamyari, F., Ghasemi, F., Heidari, M.M, Khatami, M., Merat, S., Rejali, L., Zeinali, S.
Published 2021

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

by Li, H., Mao, Y., Tang, S., Xiang, Y., Xu, C., Xu, X., Xu, Y., Zhou, L.
Published 2021

Genome-wide identification of CK gene family suggests functional expression pattern against Cd2+ stress in Gossypium hirsutum L.

by Chen, C., Chen, X., Fan, Y., Guo, L., Han, M., Lu, X., Malik, W.A, Rui, C., Sun, L., Wang, D., Wang, J., Wang, J., Wang, Q., Wang, S., Xu, N., Ye, W., Zhang, H., Zhang, Y., Zhao, L.
Published 2021

StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants

by Brenner, S.E, Hu, Z., Sharo, A.G, Sunyaev, S.R
Published 2022

RNA editing regulates lncRNA splicing in human early embryo development

by Ma, X., Qiu, J., Yan, J., Zeng, F.
Published 2021

Streamlining differential exon and 3′ UTR usage with diffUTR

by Gerber, S., Germain, P.-L, Schratt, G.
Published 2021

Identification of Cytochrome b-245, beta-chain gene mutations, and clinical presentations in Iranian patients with X-linked chronic granulomatous disease

by Abolnezhadian, F., Ghadiri, A.A, Ghandil, P., Heydari, A., Saberi, A., Sadeghi-Shabestari, M., Shamsizadeh, A.
Published 2021

Using Galaxy to Perform Large-Scale Interactive Data Analyses—An Update

by Afgan, E., Blankenberg, D., Bouvier, D., Clements, D., Hillman-Jackson, J., Lariviere, D., Nekrutenko, A., Ostrovsky, A., Schatz, M.C, Taylor, J., Team, T.G
Published 2021

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

by Alkhunaizi, E., Brandt, T., Chitayat, D.A, DeFilippo, C.P, Douglas, G.V, Dubbs, H.A, Elloumi, H.Z, Glassford, M.R, Graf, W.D, Hannibal, M.C, Héron, B., Kim, L.E, Marco, E.J, Mignot, C., Monaghan, K.G, Morrow, M.M, Myers, K.A, Parikh, S., Quinonez, S.C, Rajabi, F., Sarnat, H.B, Shankar, S.P, Shinawi, M.S, Steele, J.L, van de Kamp, J.J.P, Veerapandiyan, A., Waldman, A.T
Published 2022

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies

by Altmüller, J., Campbell, S.E, Gordon, L.B, Kubisch, C., Lessel, D., Rading, K., Thiele, H.
Published 2022

Detection of CYP2C19 genetic variants in Malaysian Orang Asli from massively parallel sequencing data

by Ahmad, A., Ang, G.Y, Aziz, T.A.T.A, Isa, K.M, Ismail, A.I, James, R.J, Khalid, M.I.H.A, Nor, F.M, Rahman, T.A, Salleh, H., Salleh, M.Z, Subramaniam, V., Teh, L.K, Yu, C.Y
Published 2016