Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations

by Hu, J.C.C, Hyun, H.K, Kang, J., Kasimoglu, Y., Kim, J.W, Kim, Y.J, Kim, Y.J, Koruyucu, M., Lee, S.H, Lee, Z.H, Seymen, F., Shin, T.J, Simmer, J.P
Published 2018

Novel GREM1 variations in Sub-Saharan African patients with cleft lip and/or cleft palate

by Abdur-Rahman, L.O, Adeyemo, A.A, Adeyemo, W.L, Agbenorku, P., Aregbesola, B.S, Audu, R., Bello, S.A, Busch, T.D, Butali, A., Donkor, P., Eshete, M.A, Gowans, L.J.J, Marazita, M.L, Mossey, P.A, Murray, J.C, Obiri-Yeboah, S., Oginni, F.O, Ogunlewe, M.O, Olaitan, P.B, Onwuamah, C., Oseni, G., Oti, A.A, Owais, A., Plange-Rhule, G.
Published 2018

Primary failure of eruption: Clinical and genetic findings in the mixed dentition

by Cafiero, C., D'Apolito, I., Frazier-Bowers, S.A, Grippaudo, C., Ricci, B.
Published 2018

Dentin dysplasia type 1 - Clinical management dilemmas: A case report of first-generation sufferers

by Grewal, N., Gumber, S., Kaur, A., Kaur, N.
Published 2018

Hypercementosis Associated with ENPP1 Mutations and GACI

by Alqadi, A., Chalmers, N.I, Chavez, M.B, Chu, E.Y, Collins, M.T, Ferreira, C.R, FitzGerald, K., Foster, B.L, Gafni, R.I, Gahl, W.A, Hsu, K.S, Ramnitz, M.S, Somerman, M.J, Thumbigere-Math, V., Ziegler, S.G
Published 2018

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

Age-specific, population-level pedigree of wild black bears provides insights into reproduction, paternity, and maternal effects on offspring apparent survival

by Engkjer, C., Muench, C., Pilgrim, K.L, Ramsey, A.B, Ramsey, P.W, Reynolds-Hogland, M.J
Published 2022

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

Novel factor VII gene mutations in six families with hereditary coagulation factor VII deficiency

by Fang, Y., Feng, Q., Leng, S., Peng, J., Sheng, Z., Wang, S., Xu, S., Zhang, L., Zhang, X., Zhang, X., Zhang, Y.
Published 2021

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea

by Chen, H., Huang, Z., Liu, Y., Lyu, J., Sun, X., Wu, J., Ye, L., Yu, D., Yuan, C.
Published 2021

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria

by Habulieti, X., Liu, J.-W, Ma, D.-L, Wang, R.-R, Zhang, X.
Published 2021

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene

by Cao, M., Huang, Z., Lin, J., Zhang, D., Zhou, H.
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

Extended-amygdala intrinsic functional connectivity networks: A population study

by Berry, S.C, Lancaster, T.M, Lawrence, A.D, Wise, R.G
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

Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-ori...

by Aoi, N., Iwanami, M., Komuta, Y., Rai, D., Seko, Y., Takahashi, Y., Umezawa, A.
Published 2022

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease

by Allikmets, R., Brooks, B.P, Chen, R., Fishman, G.A, Goetz, K., Hufnagel, R.B, Lee, W., Nagasaki, T., Su, P.-Y, Tsang, S.H, Tumminia, S.J, Ullah, E., Wang, J., Zernant, J.
Published 2022