Search Results - "Medical genetics"

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  1. 1261
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    A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature by Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu

    Published 2017
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  2. 1262
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    Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report by Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault

    Published 2018
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  3. 1263
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    Aging syndrome genes and premature coronary artery disease by Chae Claudia U, Everett Brendan, Kathiresan Sekar, O'Donnell Christopher J, Low Adrian F, Shaw Stanley Y, Ellinor Patrick T, MacRae Calum A

    Published 2005
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  4. 1264
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    <it>SCN5A </it>allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr by Levy Bruce P, Lewis Adele, Wang Lily, Kunic Jennifer, Killen Stacy AS, Ackerman Michael J, George Alfred L

    Published 2010
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  5. 1265
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    "A rising tide lifts all boats": establishing a multidisciplinary genomic tumor board for breast cancer patients with advanced disease by Michelle L. McGowan, Roselle S. Ponsaran, Paula Silverman, Lyndsay N. Harris, Patricia A. Marshall

    Published 2016
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  6. 1266
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    What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors? - Protocol of a systematic review by Steurer J, Puhan MA, Scharplatz M, Bachmann LM

    Published 2004
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  7. 1267
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    Maternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Stu... by Bonilla Carolina, Lawlor Debbie A, Ben-Shlomo Yoav, Ness Andrew R, Gunnell David, Ring Susan M, Smith George, Lewis Sarah J

    Published 2012
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  8. 1268
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    Identification and analysis of KLF13 variants in patients with congenital heart disease by Wenjuan Li, Baolei Li, Tingting Li, Ergeng Zhang, Qingjie Wang, Sun Chen, Kun Sun

    Published 2020
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  9. 1269
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    Ser80Ile mutation and a concurrent Pro25Leu variant of the <it>VHL </it>gene in an extended Hungarian von Hippel-Lindau family by Fazakas Ferenc, Toth Miklos, Balogh Katalin, Gergics Peter, Patocs Attila, Liko Istvan, Racz Karoly

    Published 2008
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  10. 1270
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    Association of <it>SELE</it> genotypes/haplotypes with sE-selectin levels in Taiwanese individuals: interactive effect of MMP9 level by Wu Semon, Hsu Lung-An, Teng Ming-Sheng, Lin Jeng-Feng, Chang Hsien-Hsun, Sun Yu-Chen, Chen Hsuan-Pu, Ko Yu-Lin

    Published 2012
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  11. 1271
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    A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin by Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang, Jingmin Wang

    Published 2019
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  12. 1272
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    <it>CD209 </it>in inflammatory bowel disease: a case-control study in the Spanish population by Urcelay Elena, de la Concha Emilio G, López-Nevot Miguel A, Gómez Luis M, Taxonera Carlos, Gómez-García María, Mendoza Juan, Oliver Javier, Núñez Concepción, Martínez Alfonso, Martín Javier

    Published 2007
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  13. 1273
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    A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report by Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie

    Published 2018
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  14. 1274
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    Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients by Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein

    Published 2017
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  15. 1275
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    A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary by Andrea Sümegi, Zoltán Hendrik, Tamás Gáll, Enikő Felszeghy, Katalin Szakszon, Péter Antal-Szalmás, Lívia Beke, Ágnes Papp, Gábor Méhes, József Balla, György Balla

    Published 2020
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  16. 1276
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    Next-generation sequencing based newborn screening and comparative analysis with MS/MS by Guosong Shen, Wenwen Li, Yaqin Zhang, Lyuyan Chen

    Published 2024
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  17. 1277
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    Mapping the value for money of precision medicine: a systematic literature review and meta-analysis by Wenjia Chen, Nigel Chong Boon Wong, Yi Wang, Yaroslava Zemlyanska, Dimple Butani, Suchin Virabhak, David Bruce Matchar, David Bruce Matchar, Thittaya Prapinvanich, Yot Teerawattananon, Yot Teerawattananon

    Published 2023
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  18. 1278
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    A tagging SNP in <it>INSIG2 </it>is associated with obesity-related phenotypes among Samoans by Zhang Ge, Xi Huifeng, Laumoli Tuiasina S, Toelupe Palanitina T, Pal Prodipto, Xu Ling, Deka Ranjan, Weeks Daniel E, McGarvey Stephen T

    Published 2009
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  19. 1279
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    Change of dopamine receptor mRNA expression in lymphocyte of schizophrenic patients by Choi Chul-Hee, Koo Min-Seong, Kwak Yong T, Sunwoo IN

    Published 2001
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  20. 1280
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    Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia by Lee Jae-Bom, Seo Jiyoung, Lee Kyu-Yong, Lee Hyoung-Doo, Kim Seon-Tae, Kim Mi-Jung, Lee Young-Jae, Oh Suk P

    Published 2011
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