Search Results - "intron"

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  1. 161
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    A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family by Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li

    Published 2024
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  2. 162
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    Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based st... by Barrett-Connor Elizabeth, Ginsburg Geoffrey S, Guyton John, Suchindran Sunil, Nichols Marshall, Chiba-Falek Ornit, McCarthy Jeanette J

    Published 2010
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  3. 163
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    Differential alternative splicing regulation among hepatocellular carcinoma with different risk factors by Young-Joo Jin, Seyoun Byun, Seonggyun Han, John Chamberlin, Dongwook Kim, Min Jung Kim, Younghee Lee

    Published 2019
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  4. 164
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    Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients by Zagrosek Vera, Lembo Giuseppe, Izzo Raffaele, Trimarco Bruno, Amoroso Antonio, Padovan Lara, Segat Ludovica, Palumbo Valeria, Knoll Ralph, Brancaccio Mara, Tarone Guido, Crovella Sergio

    Published 2009
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  5. 165
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    A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss by Min He, Miaomiao Hu, Qiang Zhang, Kai Yao

    Published 2024
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  6. 166
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    Subacute Schlerosing Panencephalitis by J Gordon Millichap

    Published 1987
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  7. 167
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    ISOLASI DNA PARSIAL GEN Tyrosinase-Related Protein-1 (TYRP1) PADA IKAN GURAME (Osphronemus gouramy) by Sandy, Angga Kly

    Published 2015
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  8. 168
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    Molecular Biology of the Transfer RNA Revisited by Akio Kanai

    Published 2014
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  9. 169
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    Multiple splice defects in <it>ABCA1 </it>cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease by Miller Michael, Gardner David F, Mantaring Myrna M, Rhyne Jeffrey

    Published 2009
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  10. 170
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    Identificación del polimorfismo c.2448-25G>A en pacientes con diagnóstico clínico de la enfermedad de Wilson by Yulia Clark Feoktistova, Caridad Ruenes Domech, Elsa F García Bacallao, Teresa Collazo Mesa, Zoe Robaina Jiménez, Hilda Roblejo Balbuena

    Published 2015
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  11. 171
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    Follistatin supplementation induces changes in CDX2 CpG methylation and improves in vitro development of bovine SCNT preimplantation embryos by Mohamed Ashry, Chunyan Yang, Sandeep K. Rajput, Joseph K. Folger, Jason G. Knott, George W. Smith

    Published 2021
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  12. 172
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    A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis by Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J

    Published 2011
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  13. 173
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    The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus by Chandok Gurangad, Farahani Maryam M, Sadeghpour Anita, Keramati Ali R, Mani Arya

    Published 2010
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  14. 174
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    CYP2D6 copy number determination using digital PCR by Wendy Y. Wang, Lancy Lin, Erin C. Boone, Junko Stevens, Andrea Gaedigk, Andrea Gaedigk

    Published 2024
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  15. 175
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    A novel germline <it>PALB2 </it>deletion in Polish breast and ovarian cancer patients by Cendrowski Krzysztof, Derlatka Pawel, Niwinska Anna, Nowakowska Dorota, Dabrowska Michalina, Moes Joanna, Kluska Anna, Dansonka-Mieszkowska Agnieszka, Kupryjanczyk Jolanta

    Published 2010
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  16. 176
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    Clinical aspects of TP53 gene inactivation in diffuse large B-cell lymphoma by Elena N. Voropaeva, Tatyana I. Pospelova, Mikhail I. Voevoda, Vladimir N. Maksimov, Yuriy L. Orlov, Olga B. Seregina

    Published 2019
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  17. 177
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    A complete linkage disequilibrium in a haplotype of three SNPs in Fat Mass and Obesity associated (FTO) gene was strongly associated with anthropometric indices after controlling f... by Naser Kalantari, Nastaran Keshavarz Mohammadi, Pantea Izadi, Maryam Gholamalizadeh, Saeid Doaei, Hassan Eini-Zinab, Tuire Salonurmi, Shahram Rafieifar, Reza Janipoor, Ghasem Azizi Tabesh

    Published 2018
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  18. 178
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    Identification of novel CYP2D7-2D6 hybrids: non-functional and functional variants by Andrea Gaedigk, Lazara K M Jaime, Joseph S Bertino, Jr, Anick Bérard, Victoria Pratt, L D Bradford, J S Leeder

    Published 2010
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  19. 179
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    Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children by Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Liao

    Published 2023
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  20. 180
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    Identificación del polimorfismo c.2448-25G>A en pacientes con diagnóstico clínico de la enfermedad de Wilson by Yulia Clark Feoktistova, Caridad Ruenes Domech, Elsa F García Bacallao, Teresa Collazo Mesa, Zoe Robaina Jiménez, Hilda Roblejo Balbuena

    Published 2015
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