Thomas Friedman - Related publications

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16 most relevant papers in past 60 days:
Year Citation  Score
2022 Feng K, Ge H, Chen H, Cui C, Zhang S, Zhang C, Meng L, Guo H, Zhang L. Novel exon mutation in SYCE1 gene is associated with non-obstructive azoospermia. Journal of Cellular and Molecular Medicine. PMID 35023261 DOI: 10.1111/jcmm.17180   
2022 Abdelrahman HA, Akawi N, Al-Shamsi AM, Ali A, Al-Jasmi F, John A, Hertecant J, Al-Gazali L, Ali BR. Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive. Clinical Genetics. PMID 34988996 DOI: 10.1111/cge.14107   
2022 Liu YD, Huang SS, Li M, Lek M, Song DY, Tan DD, Chen XY, Zhang H, Liu JY, Chang XZ, Xiong H. A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11. Clinical Genetics. PMID 34988992 DOI: 10.1111/cge.14108   
2022 Liu J, Ding Y, Hu Y. [Identifications of the novel mutants on in a family with non-syndromic hereditary deafness]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery. 36: 27-31. PMID 34979615 DOI: 10.13201/j.issn.2096-7993.2022.01.006   
2022 Guomei C, Luyan Z, Lingling D, Chunhong H, Shan C. Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China. Computational and Mathematical Methods in Medicine. 2022: 1713337. PMID 35047053 DOI: 10.1155/2022/1713337   
2022 Dong J, Fu J, Yan Z, Li L, Qiu Y, Zeng Y, Liu R, Chen B, Shi R, Diao F, Wang L, Shi Q, Sang Q. Novel biallelic mutations in PADI6 in patients with early embryonic arrest. Journal of Human Genetics. PMID 34987164 DOI: 10.1038/s10038-021-00998-8   
2022 Gong P, Liu J, Jiao X, Niu Y, Wang J, Wang X, Yang Z. Novel biallelic loss of EEF1B2 function links to autosomal recessive intellectual disability. Human Mutation. PMID 35015920 DOI: 10.1002/humu.24329   
2022 Zhou C, Wang J, Zhang Q, Yang Q, Yi S, Shen Y, Luo J, Qin Z. Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 34990597 DOI: 10.1016/j.cca.2021.12.025   
2022 Lucaciu SA, Shao Q, Figliuzzi R, Barr K, Bai D, Laird DW. Interrogation of Carboxy-Terminus Localized Variants Associated with Erythrokeratodermia Variabilis et Progressiva. International Journal of Molecular Sciences. 23. PMID 35008913 DOI: 10.3390/ijms23010486   
2022 Giesen N, Paramasivam N, Toprak UH, Huebschmann D, Xu J, Uhrig S, Samur M, Bähr S, Fröhlich M, Mughal SS, Mai EK, Jauch A, Müller-Tidow C, Brors B, Munshi N, et al. Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities. Haematologica. PMID 35045690 DOI: 10.3324/haematol.2021.279360   
2022 Wang XT, Wang X, Zhang RS, Cheng K, Xia QY, Rao Q. [Succinate dehydrogenase-deficient renal cell carcinoma:a clinicopathological, ultrastructural and molecular analysis]. Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology. 51: 12-16. PMID 34979747 DOI: 10.3760/cma.j.cn112151-20210823-00590   
2022 Hsu AP, Holland SM. Host genetics of innate immune system in infection. Current Opinion in Immunology. 74: 140-149. PMID 35051824 DOI: 10.1016/j.coi.2021.11.003   
2022 Kin Chau MH, Li Y, Dai P, Shi M, Zhu X, Wah Chung JP, Kwok YK, Choy KW, Kong X, Dong Z. Investigation of the genetic etiology in male infertility with apparently balanced chromosomal structural rearrangements by genome sequencing. Asian Journal of Andrology. PMID 35017386 DOI: 10.4103/aja2021106   
2022 Ma W, Yang J, Fu H, Su C, Yu C, Wang Q, de Vasconcelos ATR, Bazykin GA, Bao Y, Li M. Genomic perspectives on the emerging SARS-CoV-2 omicron variant. Genomics, Proteomics & Bioinformatics. PMID 35033679 DOI: 10.1016/j.gpb.2022.01.001   
2022 Bagaria J, Bagyinszky E, An SSA. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration. International Journal of Molecular Sciences. 23. PMID 35008978 DOI: 10.3390/ijms23010552   
2022 Downing J, D'Orsogna L. High-resolution human KIR genotyping. Immunogenetics. PMID 35050404 DOI: 10.1007/s00251-021-01247-0