Browse Publikacje naukowe by journal title "Human Molecular Genetics"

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Browse Publikacje naukowe by journal title "Human Molecular Genetics"

Now showing items 1-6 of 6

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Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Kong Xiao-Fei, Vogt Guillaume, Itan Yuval, Macura-Biegun Anna, Szaflarska Anna , Kowalczyk Danuta , Chapgier Ariane, Abhyankar Avinash, Furthner Dieter, Djambas Khayat Claudia, Okada Satoshi, Bryant Vanessa L., Bogunovic Dusan, Kreins Alexandra, Moncada-Velez Marcela, Migaud Melanie, Al-Ajaji Sulaiman, Al-Muhsen Saleh, Holland Steven M., Abel Laurent, Picard Capucine, Chaussabel Damien, Bustamante Jacinta, Casanova Jean-Laurent, Boisson-Dupuis Stephanie

Human Molecular Genetics, 2013 vol. 22 no. 4, p. 769-781

journal article | academic paper punktacja MNiSW [2013 A]: 40
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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Martin Ella, Enriquez Annabelle, Sparrow Duncan, Humphreys David, McInerney-Leo Aideen, Leo Paul, Duncan Emma, Iyer Kavitha, Greasby Joelene, Ip Eddie, Giannoulatou Eleni, Sheng Delicia, Wohler Elizabeth, Dimartino Clémantine, Amiel Jeanne, Capri Yline, Lehalle Daphné, Mory Adi, Wilnai Yael, Lebenthal Yael, Gharavi Ali, Krzemień Grażyna, Miklaszewska Monika , Steiner Robert, Raggio Cathy, Blank Robert, Feldman Hagit, Rasouly Hila, Sobreira Nara, Jobling Rebekah, Gordon Christopher, Giampietro Philip, Dunwoodie Sally, Chapman Gavin

Human Molecular Genetics, 2020 vol. 29 no. 22, p. 3662-3678

journal article | academic paper punktacja MNiSW [2020]: 140
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Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease

Gaughwin Philip Michael, Cieśla Maciej , Lahiri Nayana, Tabrizi Sarah J., Brundin Patrik, Bjorkqvist Maria

Human Molecular Genetics, 2011 vol. 20 no. 11, p. 2225-2237

journal article | academic paper punktacja MNiSW [2011 A]: 40
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Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

Gispert Suzana, Parganlija Dajana, Klinkenberg Michael, Droese Stefan, Wittig Ilka, Mittelbronn Michel, Grzmil Paweł , Koob Sebastian, Hamann Andrea, Walter Michael, Buechel Finja, Adler Thure, de Angelis Martin Hrabe, Busch Dirk H., Zell Andreas, Reichert Andreas S., Brandt Ulrich, Osiewacz Heinz D., Jendrach Marina, Auburger Georg

Human Molecular Genetics, 2013 vol. 22 no. 24, p. 4871-4887

journal article | academic paper punktacja MNiSW [2013 A]: 40
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Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Liu Fan, Chen Yan, Zhu Gu, Hysi Pirro G., Wu Sijie, Adhikari Kaustubh, Breslin Krystal, Pośpiech Ewelina , Hamer Merel A., Peng Fuduan, Muralidharan Charanya, Acuna-Alonzo Victor, Canizales-Quinteros Samuel, Bedoya Gabriel, Gallo Carla, Poletti Giovanni, Rothhammer Francisco, Bortolini Maria Catira, Gonzalez-Jose Rolando, Zeng Changqing, Xu Shuhua, Jin Li, Uitterlinden André G., Ikram M. Arfan, van Duijn Cornelia M., Nijsten Tamar, Walsh Susan, Branicki Wojciech , Wang Sijia, Ruiz-Linares Andrés, Spector Timothy D., Martin Nicholas G., Medland Sarah E., Kayser Manfred

Human Molecular Genetics, 2018 vol. 27 no. 3, p. 559-575

journal article | academic paper punktacja MNiSW [2018 A]: 40
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Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

Vemula Satya R., Puschmann Andresa, Xiao Jianfeng, Zhao Yu, Rudzińska-Bar Monika , Frei Karen P., Truong Daniel D., Wszołek Zbigniew K., LeDoux Mark S.

Human Molecular Genetics, 2013 vol. 22 no. 12, p. 2510-2519

journal article | academic paper punktacja MNiSW [2013 A]: 40

Now showing items 1-6 of 6