Thomas Friedman - Related publications
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16 most relevant papers in past 60 days:
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 |