Search Results - "Medical Genetics"

A novel <it>COMP </it>mutation in a pseudoachondroplasia family of Chinese origin by Zhu Jun, Li Nana, Mao Meng, Wang Yanping, Xie Liang, Dai Li, Kim Christopher, Zhang Yawei

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Evidence for an association of <it>HLA-DRB1*15 </it>and <it>DRB1*09 </it>with leprosy and the impact of <it>DRB1*09 </it>on disease onset in a Chinese Han population by Chu Tongsheng, Zhang Lin, Zhu Chuanfu, Wang Changyuan, Chen Shumin, Liu Hong, Zhang Furen, Liu Dianchang, Yan Xiaoxiao, Liu Jianjun

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The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia by Lee Kuei-Fang, Hsu Chun-Shuo, Kuo Pao-Lin, Chen Jing-Liang, Jiang Yuan-Hong, Liu Ingrid Y

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Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease by Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic

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No association between the progesterone receptor gene polymorphism (+331G/a) and the risk of breast cancer: an updated meta-analysis by Xing-ling Qi, Jun Yao, Yong Zhang

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Bioethics and the Holocaust A Comprehensive Study in How the Holocaust Continues to Shape the Ethics of Health, Medicine and Human Rights

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With and Without Galton: Vasilii Florinskii and the Fate of Eugenics in Russia by Krementsov, Nikolai (Author)

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Minisequencing mitochondrial DNA pathogenic mutations by Carracedo Ángel, Barros Francisco, Álvarez-Iglesias Vanesa, Salas Antonio

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Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family by Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano

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HRG C633T polymorphism and risk of gestational hypertensive disorders: a pilot study by Evangelia Elenis, Alkistis Skalkidou, Agneta Skoog-Svanberg, Gunilla Sydsjö, Anneli Stavreus-Evers, Helena Åkerud

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LARS2-Perrault syndrome: a new case report and literature review by Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino

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Association study of functional genetic variants of innate immunity related genes in celiac disease by Martín J, López-Nevot MA, Zhernakova A, Rueda B, Koeleman BPC

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Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report by A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez, M. L. Couce

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Vitamin D receptor gene polymorphisms in association with diabetic nephropathy: a systematic review and meta-analysis by Lina Yang, Lan Wu, Yi Fan, Jianfei Ma

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A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia by Zamba-Papanicolaou Eleni, Middleton Lefkos T, Votsi Christina, Georghiou Anthi, Nicolaou Paschalis, Christodoulou Kyproula

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Association analyses of the <it>INSIG2 </it>polymorphism in the obesity and cholesterol levels of Korean populations by Shin Hyoung, Kim Jae-Ryong, Kim Kil, Park Byung, Choi Sun, Koo Imhoi, Cha Seongwon, Kim Jong

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Familial deletion 18p syndrome: case report by Lemyre Emmanuelle, Lemieux Nicole, Maranda Bruno

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Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review by Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li, Jing Liu

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Genomic characterization of large rearrangements of the <it>LDLR </it>gene in Czech patients with familial hypercholesterolemia by Fajkus Jiří, Soška Vladimír, Letocha Ondřej, Zapletalová Petra, Freiberger Tomáš, Tichý Lukáš, Goldmann Radan, Fajkusová Lenka

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Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China by Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li

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