Search Results - "Medical genetics"

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  1. 761
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    Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux by Khan Saadullah, Ali Raja, Abbasi Sanaullah, Nawaz Muhammad, Muhammad Noor, Ahmad Wasim

    Published 2012
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  2. 762
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    Telomerase activity in human leukemic cells with or without monosomy 7 or 7q- by Koch Jørn E, Serakinci Nedime

    Published 2002
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  3. 763
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    Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case... by Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning, Shu-Han Sun

    Published 2017
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  4. 764
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    Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study by José Maria Soares-Jr, Felisbela Soares de Holanda, Cézar Noboru Matsuzaki, Isabel Cristina Esposito Sorpreso, Eduardo Carvalho de Arruda Veiga, Luiz Carlos de Abreu, Kátia Cândido Carvalho, Edmund Chada Baracat

    Published 2018
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  5. 765
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    A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family by Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li

    Published 2018
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  6. 766
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    Association of interleukin 2, interleukin 12, and interferon-γ with intervertebral disc degeneration in Iranian population by Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Ehsan Fattahi, Alireza Khoshnevisan, Nima Rezaei

    Published 2020
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  7. 767
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    First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations by Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa

    Published 2017
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  8. 768
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    Functional effects of the <it>TMEM43 </it>Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy by Rajkumar Revathi, Sembrat John C, McDonough Barbara, Seidman Christine E, Ahmad Ferhaan

    Published 2012
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  9. 769
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    Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome by Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, Shuyang Zhang

    Published 2019
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  10. 770
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    High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence by Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant, Aurélia Poujois

    Published 2018
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  11. 771
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    Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease by Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky, Carol Saunders

    Published 2017
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  12. 772
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    Weak association between the interleukin-8 rs4073 polymorphism and acute pancreatitis: a cumulative meta-analysis by Yening Li, Jing Bai, Bing He, Nan Wang, Haoran Wang, Dongliang Liu

    Published 2019
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  13. 773
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    Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report by Gang Liu, Dingyuan Ma, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang, Zhengfeng Xu

    Published 2018
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  14. 774
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    Pathogenesis of vestibular schwannoma in ring chromosome 22 by Debiec-Rychter Maria, Sciot Raf, Bowers Naomi, Van Calenbergh Frank, Evans Gareth D, de Cock Paul, Brems Hilde, Denayer Ellen, Vermeesch Joris V, Fryns Jean-Pierre, Legius Eric

    Published 2009
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  15. 775
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    Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome by Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao, Tianli Fan

    Published 2020
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  16. 776
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    Bilateral giant retinal tears in Osteogenesis Imperfecta by Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt, Catherine DeVile

    Published 2018
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  17. 777
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    Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients by Křepelová Anna, Roubalík Jan, Puchmajerová Alena, Vasovčák Peter

    Published 2009
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  18. 778
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    Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder by Grabe Hans, Mössner Rainald, Chaste Pauline, Maier Wolfgang, Gennetier Aurélie, Moreno-, Delorme Richard, Ruhrmann Stephan, Falkai Peter, Mouren Marie-Christine, Leboyer Marion, Wagner Michael, Betancur Catalina

    Published 2010
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  19. 779
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    Association of KCNJ11 rs5219 gene polymorphism with type 2 diabetes mellitus in a population of Syria: a case-control study by Osama Makhzoom, Younes Kabalan, Faizeh AL-Quobaili

    Published 2019
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  20. 780
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    Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam by Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan, Hoai-Nghia Nguyen

    Published 2018
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