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Material Type: Artigo
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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomesSchmitz-Abe, Klaus ; Li, Qifei ; Rosen, Samantha M ; Nori, Neeharika ; Madden, Jill A ; Genetti, Casie A ; Wojcik, Monica H ; Ponnaluri, Sadhana ; Gubbels, Cynthia S ; Picker, Jonathan D ; O'Donnell-Luria, Anne H ; Yu, Timothy W ; Bodamer, Olaf ; Brownstein, Catherine A ; Beggs, Alan H ; Agrawal, Pankaj BEuropean journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1398-1405 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Connexin 26 mutations in cases of sensorineural deafness in eastern AustriaFrei, Klemens ; Szuhai, Károly ; Lucas, Trevor ; Weipoltshammer, Klara ; Schöfer, Christian ; Ramsebner, Reinhard ; Baumgartner, Wolf-Dieter ; Raap, Anton K ; Bittner, Reginald ; Wachtler, Franz J ; Kirschhofer, KarinEuropean journal of human genetics : EJHG, 2002-07, Vol.10 (7), p.427-432 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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3 |
Material Type: Artigo
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Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the worldLund, A ; Udd, B ; Juvonen, V ; Andersen, P M ; Cederquist, K ; Davis, M ; Gellera, C ; Kölmel, C ; Ronnevi, L O ; Sperfeld, A D ; Sörensen, S A ; Tranebjaerg, L ; Van Maldergem, L ; Watanabe, M ; Weber, M ; Yeung, L ; Savontaus, M LEuropean journal of human genetics : EJHG, 2001-06, Vol.9 (6), p.431-436 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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A genome-wide association study for age-related hearing impairment in the SaamiVAN LAER, Lut ; HUYGHE, Jeroen R ; HUENTELMAN, Matthew J ; VAN CAMP, Guy ; HANNULA, Samuli ; VAN EYKEN, Els ; STEPHAN, Dietrich A ; MÄKI-TORKKO, Elina ; AIKIO, Pekka ; FRANSEN, Erik ; LYSHOLM-BERNACCHI, Alana ; SORRI, MarttiEuropean journal of human genetics : EJHG, 2010-06, Vol.18 (6), p.685-693 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)Yamoto, Kaori ; Saitsu, Hirotomo ; Nishimura, Gen ; Kosaki, Rika ; Takayama, Shinichiro ; Haga, Nobuhiko ; Tonoki, Hidefumi ; Okumura, Akihisa ; Horii, Emiko ; Okamoto, Nobuhiko ; Suzumura, Hiroshi ; Ikegawa, Shiro ; Kato, Fumiko ; Fujisawa, Yasuko ; Nagata, Eiko ; Takada, Shuji ; Fukami, Maki ; Ogata, TsutomuEuropean journal of human genetics : EJHG, 2019-12, Vol.27 (12), p.1845-1857 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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6 |
Material Type: Artigo
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GWAS of five gynecologic diseases and cross-trait analysis in JapaneseMasuda, Tatsuo ; Low, Siew-Kee ; Akiyama, Masato ; Hirata, Makoto ; Ueda, Yutaka ; Matsuda, Koichi ; Kimura, Tadashi ; Murakami, Yoshinori ; Kubo, Michiaki ; Kamatani, Yoichiro ; Okada, YukinoriEuropean journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.95-107 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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7 |
Material Type: Artigo
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Appelhof, Bart ; Wagner, Matias ; Hoefele, Julia ; Heinze, Anja ; Roser, Timo ; Koch-Hogrebe, Margarete ; Roosendaal, Stefan D ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Yahya Vahidi ; Torti, Erin ; Houlden, Henry ; Maroofian, Reza ; Rajabi, Farrah ; Sticht, Heinrich ; Baas, Frank ; Wieczorek, Dagmar ; Jamra, Rami AbouEuropean journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.411-421 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patientsde Oliveira, Jarbas Maciel ; Zurro, Nuria Bengala ; Coelho, Antonio Victor Campos ; Caraciolo, Marcel Pinheiro ; de Alexandre, Rodrigo Bertollo ; Cervato, Murilo Castro ; Minillo, Renata Moldenhauer ; de Vasconcelos Carvalho Neto, George ; Grivicich, Ivana ; Oliveira, João BoscoEuropean journal of human genetics : EJHG, 2022-07, Vol.30 (7), p.818-823 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosumZhou, Xiaolong ; Khan, Sikandar G ; Tamura, Deborah ; Ueda, Takahiro ; Boyle, Jennifer ; Compe, Emmanuel ; Egly, Jean-Marc ; DiGiovanna, John J ; Kraemer, Kenneth HEuropean journal of human genetics : EJHG, 2013-08, Vol.21 (8), p.831-837 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Molecular genetics of the fruit-fly circadian clockROSATO, Ezio ; TAUBER, Eran ; KYRIACOU, Charalambos PEuropean journal of human genetics : EJHG, 2006-06, Vol.14 (6), p.729-738 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |