missense

Explore academic connections and research related to this keyword

149
Views
100
Total Connections
Search More Keywords

Related Articles & Bibliographies

1
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
Lupski JR;Reid JG;Gonzaga-Jauregui C;Rio Deiros D;Chen DC;Nazareth L;Bainbridge M;Dinh H;Jing C;Whee...
2010 The New England journal of medicine 259 views
2
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity
Liu Y;Ramot Y;Torrelo A;Paller AS;Si N;Babay S;Kim PW;Sheikh A;Lee CC;Chen Y;Vera A;Zhang X;Goldbach...
2012 Arthritis and rheumatism 276 views
3
Physical Association of Saccharomyces cerevisiae Polo-like Kinase Cdc5 with Chromosomal Cohesin Facilitates DNA Damage Response
Pakchuen S;Ishibashi M;Takakusagi E;Shirahige K;Sutani T;;
2016 The Journal of biological chemistry 238 views
4
Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.
Guindalini, Rodrigo Santa Cruz;Cormedi, Marina Cândido Visontai;Maistro, Simone;Pasini, Fátima Solan...
2019 gastric cancer : official journal of the internati... DOI: 10.1007/s10120-019-0... 327 views
5
Frequent mutations in EGFR, KRAS and TP53 genes in human lung cancer tumors detected by ion torrent DNA sequencing.
Cai, Xin;Sheng, Jianhui;Tang, Chuanning;Nandakumar, Vijayalakshmi;Ye, Hua;Ji, Hong;Tang, Haiying;Qin...
2014 PloS one 372 views
6
Genetic variants of flavin-containing monooxygenase 3 (FMO3) derived from Japanese subjects with the trimethylaminuria phenotype and whole-genome sequence data from a large Japanese database.
Shimizu, Makiko;Yoda, Hiromi;Nakakuki, Komei;Saso, Aoi;Saito, Iria;Hishinuma, Eiji;Saito, Sakae;Hira...
2019 drug metabolism and pharmacokinetics DOI: S1347-4367(19)30099-... 307 views
7
The Aspergillus fumigatus Mismatch Repair Homolog Is Important for Virulence and Azole Resistance.
Dos Reis, Thaila Fernanda;Silva, Lilian Pereira;de Castro, Patrícia Alves;do Carmo, Rafaela Andrade;...
2019 msphere DOI: e00416-19 271 views
8
Mechanisms of azole resistance in clinical isolates of Candida glabrata from two hospitals in China
Dongting Yao;Jia Chen;Weiqin Chen;Zhen Li;Xiaobo Hu and
2019 Infection and drug resistance DOI: 10.2147/IDR.S202058 276 views
9
Recombinant factor XIII and congenital factor XIII deficiency: an update from human and animal studies
Aida Inbal and
2013 research reports in clinical cardiology DOI: 10.2147/RRCC.S53225 251 views
10
Mechanisms of azole resistance in clinical isolates of Candida glabrata from two hospitals in China
Dongting Yao;Jia Chen;Weiqin Chen;Zhen Li;Xiaobo Hu;
2019 Infection and drug resistance DOI: 10.2147/IDR.S202058 231 views
11
Recombinant factor XIII and congenital factor XIII deficiency: an update from human and animal studies
Aida Inbal;
2013 research reports in clinical cardiology DOI: 10.2147/RRCC.S53225 247 views
12
Variation in TMEM106B in chronic traumatic encephalopathy
Cherry, Jonathan D.;Mez, Jesse;Crary, John F.;Tripodis, Yorghos;Alvarez, Victor E.;Mahar, Ian;Huber,...
2018 acta neuropathologica communications 436 views
13
De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases.
Li, Jia;Zhang, Jin;Tang, Weiting;Mizu, Ruth K;Kusumoto, Hirofumi;XiangWei, Wenshu;Xu, Yuchen;Chen, W...
2019 human mutation DOI: 10.1002/humu.23895 257 views
14
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden, Tenzin;Sepulveda, Fernando E;Khuong-Quang, Dong-Anh;Pratt, Jonathan;Valera, Elvis T;Garrigue...
2018 nature genetics DOI: 10.1038/s41588-018-0... 323 views
15
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
Cagdas, Deniz;Halaçlı, Sevil Oskay;Tan, Çağman;Lo, Bernice;Çetinkaya, Pınar Gür;Esenboğa, Saliha;Kar...
2019 Journal of clinical immunology DOI: 10.1007/s10875-019-0... 249 views
16
Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient.
Vallejo-Diez, Sara;Fleischer, Aarne;Martín-Fernández, José María;Sánchez-Gilabert, Almudena;Bachille...
2018 Stem cell research DOI: S1873-5061(18)30264-... 195 views
17
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Barboza-Cerda, María Carmen;Barboza-Quintana, Oralia;Martínez-Aldape, Gerardo;Garza-Guajardo, Raquel...
2019 molecular genetics & genomic medicine DOI: 10.1002/mgg3.931 234 views
18
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
Wuttke, Matthias;Li, Yong;Li, Man;Sieber, Karsten B;Feitosa, Mary F;Gorski, Mathias;Tin, Adrienne;Wa...
2019 nature genetics DOI: 10.1038/s41588-019-0... 204 views
19
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras, Natasha;Ha, Thoa K;Rego, Shannon;Martin, Pierre-Marie;Barroso, Eva;Slavotinek, Anne M;Cilio,...
2019 american journal of medical genetics part a DOI: 10.1002/ajmg.a.61344 213 views
20
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria, Anne H;Pais, Lynn S;Faundes, Víctor;Wood, Jordan C;Sveden, Abigail;Luria, Victor;Ab...
2019 American journal of human genetics DOI: S0002-9297(19)30117-... 279 views

Related Journals

No Journals Found

No journals are currently associated with this keyword.

Related Research Groups

No Research Groups Found

No research groups are currently associated with this keyword.

Explore Related Keywords

National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine research support adult female male N.I.H. Extramural aged middle aged codon 80 and over DNA