Works matching IS 10597794 AND DT 2019 AND VI 40 AND IP 4

Results: 15

Cover Image, Volume 40, Issue 4.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. ii, doi. 10.1002/humu.23727
By:
- Jung‐KC, Kunwar;
- Himmelreich, Nastassja;
- Prestegård, Karina S.;
- Shi, Tie‐Jun Sten;
- Scherer, Tanja;
- Ying, Ming;
- Jorge‐Finnigan, Ana;
- Thöny, Beat;
- Blau, Nenad;
- Martinez, Aurora
Publication type:
Article
Cover Image, Volume 40, Issue 4.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. i, doi. 10.1002/humu.23726
By:
- D'Arcy, Brandon M.;
- Blount, Jessa;
- Prakash, Aishwarya
Publication type:
Article
Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 483, doi. 10.1002/humu.23712
By:
- Jung‐KC, Kunwar;
- Himmelreich, Nastassja;
- Prestegård, Karina S.;
- Shi, Tie‐Jun Sten;
- Scherer, Tanja;
- Ying, Ming;
- Jorge‐Finnigan, Ana;
- Thöny, Beat;
- Blau, Nenad;
- Martinez, Aurora
Publication type:
Article
Analysis of MUTYH alternative transcript expression, promoter function, and the effect of human genetic variants.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 472, doi. 10.1002/humu.23709
By:
- Köger, Nicole;
- Brieger, Angela;
- Hinrichsen, Inga M.;
- Zeuzem, Stefan;
- Plotz, Guido
Publication type:
Article
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 458, doi. 10.1002/humu.23708
By:
- D'Arcy, Brandon M.;
- Blount, Jessa;
- Prakash, Aishwarya
Publication type:
Article
Toward mechanistic models for genotype–phenotype correlations in phenylketonuria using protein stability calculations.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 444, doi. 10.1002/humu.23707
By:
- Scheller, Rasmus;
- Stein, Amelie;
- Nielsen, Sofie V.;
- Marin, Frederikke I.;
- Gerdes, Anne‐Marie;
- Marco, Miriam;
- Papaleo, Elena;
- Lindorff‐Larsen, Kresten;
- Hartmann‐Petersen, Rasmus
Publication type:
Article
Aberrant RNA splicing is the major pathogenic effect in a knock‐in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 426, doi. 10.1002/humu.23706
By:
- Li, Yan;
- Furhang, Rachel;
- Ray, Amanda;
- Duncan, Todd;
- Soucy, Joseph;
- Mahdi, Rashid;
- Chaitankar, Vijender;
- Gieser, Linn;
- Poliakov, Eugenia;
- Qian, Haohua;
- Liu, Pinghu;
- Dong, Lijin;
- Rogozin, Igor B.;
- Redmond, T. Michael
Publication type:
Article
Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approaches.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 413, doi. 10.1002/humu.23705
By:
- Ochoa, Soledad;
- Martínez‐Pérez, Elizabeth;
- Zea, Diego Javier;
- Molina‐Vila, Miguel Angel;
- Marino‐Buslje, Cristina
Publication type:
Article
Mutational mechanism for DAB1 (ATTTC)<sub>n</sub> insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 404, doi. 10.1002/humu.23704
By:
- Loureiro, Joana R.;
- Oliveira, Cláudia L.;
- Mota, Carolina;
- Castro, Ana F.;
- Costa, Cristina;
- Loureiro, José L.;
- Coutinho, Paula;
- Martins, Sandra;
- Sequeiros, Jorge;
- Silveira, Isabel
Publication type:
Article
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 392, doi. 10.1002/humu.23703
By:
- Guo, Xin‐Xin;
- Zou, Xiao‐Huan;
- Wang, Chong;
- Yao, Xiang‐Ping;
- Su, Hui‐Zhen;
- Lai, Lu‐Lu;
- Chen, Hai‐Ting;
- Lai, Jing‐Hui;
- Liu, Yao‐Bin;
- Chen, Dong‐Ping;
- Deng, Yu‐Chun;
- Lin, Pan;
- Lin, Hua‐Song;
- Hong, Bing‐Cong;
- Yao, Qing‐Yang;
- Chen, Xue‐Jiao;
- Huang, Dan‐Qin;
- Fu, Hong‐Xia;
- Peng, Ji‐Dong;
- Niu, Yan‐Fang
Publication type:
Article
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 374, doi. 10.1002/humu.23699
By:
- Cowley, Mark J;
- Liu, Yu‐Chi;
- Oliver, Karen L.;
- Carvill, Gemma;
- Myers, Candace T.;
- Gayevskiy, Velimir;
- Delatycki, Martin;
- Vlaskamp, Danique R.M.;
- Zhu, Ying;
- Mefford, Heather;
- Buckley, Michael F.;
- Bahlo, Melanie;
- Scheffer, Ingrid E.;
- Dinger, Marcel E.;
- Roscioli, Tony
Publication type:
Article
New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 361, doi. 10.1002/humu.23697
By:
- Pampalakis, Georgios;
- Mitropoulos, Konstantinos;
- Xeromerisiou, Georgia;
- Dardiotis, Efthymios;
- Deretzi, Georgia;
- Anagnostouli, Maria;
- Katsila, Theodora;
- Rentzos, Michail;
- Patrinos, George P.
Publication type:
Article
A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 380, doi. 10.1002/humu.23696
By:
- Sun, Min;
- Chen, Chunlin;
- Hou, Shengping;
- Li, Xue;
- Wang, Huan;
- Zhou, Jiaxing;
- Chen, Xi;
- Liu, Pei;
- Kijlstra, Aize;
- Lin, Sen;
- Ye, Jian
Publication type:
Article
Corrigendum.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 495, doi. 10.1002/humu.23596
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2019, v. 40, n. 4, p. 359, doi. 10.1002/humu.23571
Publication type:
Article