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There are 26397 results for: content related to: A novel homozygous mutation of DARS2 may cause a severe LBSL variant

  1. You have free access to this content
    Inactivation of oenological lactic acid bacteria (Lactobacillus hilgardii and Pediococcus pentosaceus) by wine phenolic compounds

    Journal of Applied Microbiology

    Volume 107, Issue 3, September 2009, Pages: 1042–1053, A. García-Ruiz, B. Bartolomé, C. Cueva, P.J. Martín-Álvarez and M.V. Moreno-Arribas

    Version of Record online : 31 MAR 2009, DOI: 10.1111/j.1365-2672.2009.04287.x

  2. Central nervous system malformations in oral-facial-digital syndrome, type 1

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 2, 15 July 2005, Page: 218, Margareta Holub, Lorraine Potocki and Olaf A. Bodamer

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.a.30751

  3. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor

    Clinical Endocrinology

    Volume 50, Issue 4, April 1999, Pages: 537–543, Noriko Chikatsu, Seiji Fukumoto, Miyuki Suzawa, Yuji Tanaka, Yasuhiro Takeuchi, Shu Takeda, Yasuhiro Tamura, Toshio Matsumoto and Toshiro Fujita

    Version of Record online : 24 DEC 2001, DOI: 10.1046/j.1365-2265.1999.00729.x

  4. 20q13 and cyclin D1 in ovarian carcinomas. Analysis by fluorescence in situ hybridization

    The Journal of Pathology

    Volume 190, Issue 5, April 2000, Pages: 564–571, Joachim Diebold, Kerstin Mösinger, Gloria Peiro, Uwe Pannekamp, Christine Kaltz, Gustavo B. Baretton, Werner Meier and Udo Löhrs

    Version of Record online : 22 MAR 2000, DOI: 10.1002/(SICI)1096-9896(200004)190:5<564::AID-PATH569>3.0.CO;2-L

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    Toxicity testing of destruxins and crude extracts from the insect-pathogenic fungus Metarhizium anisopliae

    FEMS Microbiology Letters

    Volume 251, Issue 1, October 2005, Pages: 23–28, Anke Skrobek and Tariq M. Butt

    Version of Record online : 9 JAN 2006, DOI: 10.1016/j.femsle.2005.07.029

  6. You have full text access to this OnlineOpen article
    Genomic regions underlying agronomic traits in linseed (Linum usitatissimum L.) as revealed by association mapping

    Journal of Integrative Plant Biology

    Volume 56, Issue 1, January 2014, Pages: 75–87, Braulio J. Soto-Cerda, Scott Duguid, Helen Booker, Gordon Rowland, Axel Diederichsen and Sylvie Cloutier

    Version of Record online : 15 JAN 2014, DOI: 10.1111/jipb.12118

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    Trichothiodystrophy group A: A first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene

    The Journal of Dermatology

    Volume 41, Issue 8, August 2014, Pages: 705–708, Shinichi Moriwaki, Hiroshi Saruwatari, Tamotsu Kanzaki, Takuro Kanekura and Shinsei Minoshima

    Version of Record online : 2 JUL 2014, DOI: 10.1111/1346-8138.12549

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    Mutations in ALDH1A3 cause microphthalmia

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 128–131, M A Aldahmesh, A O Khan, H Hijazi and F S Alkuraya

    Version of Record online : 27 MAY 2013, DOI: 10.1111/cge.12184

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    Allele-specific primer polymerase chain reaction for a single nucleotide polymorphism (C1205T) of swine Toll-like receptor 5 and comparison of the allelic frequency among several pig breeds in Japan and the Czech Republic

    Microbiology and Immunology

    Volume 56, Issue 6, June 2012, Pages: 385–391, Yoshihiro Muneta, Yu Minagawa, Masahiro Kusumoto, Hiroki Shinkai, Hirohide Uenishi and Igor Splichal

    Version of Record online : 12 JUN 2012, DOI: 10.1111/j.1348-0421.2012.00450.x

  10. DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex

    Annals of Neurology

    Volume 58, Issue 5, November 2005, Pages: 803–807, Grazia Annesi, Giovanni Savettieri, Pierfrancesco Pugliese, Marco D'Amelio, Patrizia Tarantino, Paolo Ragonese, Vincenzo La Bella, Tommaso Piccoli, Donatella Civitelli, Ferdinanda Annesi, Brigida Fierro, Federico Piccoli, Gennarina Arabia, Manuela Caracciolo, Innocenza Claudia Cirò Candiano and Aldo Quattrone

    Version of Record online : 20 OCT 2005, DOI: 10.1002/ana.20666

  11. Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2

    Muscle & Nerve

    Accepted manuscript online: 4 AUG 2016, Aurelio Hernández-Laín, Jesús Esteban-Pérez, Diana Cantero Montenegro and Cristina Domínguez-González

    DOI: 10.1002/mus.25365

  12. Anastomotic recurrence of colon cancer: Genetic analysis challenges the widely held theories of cancerous cells’ intraluminal implantation and metachronous carcinogenesis

    Journal of Surgical Oncology

    Volume 114, Issue 2, August 1, 2016, Pages: 228–236, Renato Costi, Caterina Santi, Lorena Bottarelli, Cinzia Azzoni, Alban Zarzavadjian Le Bian, Matteo Riccó, Leopoldo Sarli, Enrico Maria Silini and Vincenzo Violi

    Version of Record online : 9 MAY 2016, DOI: 10.1002/jso.24282

  13. ERCC6 founder mutation identified in Finnish patients with COFS syndrome

    Clinical Genetics

    Volume 78, Issue 6, December 2010, Pages: 541–547, E Jaakkola, A Mustonen, P Olsen, S Miettinen, T Savuoja, A Raams, NGJ Jaspers, H Shao, BL Wu and J Ignatius

    Version of Record online : 2 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01424.x

  14. Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 197–198, E. Piccinno, F. Ortolani, M. Vendemiale, A. Tummolo, M. Masciopinto, M.P. Natale, A. De Luca, E. Agolini, C. Aloi, A. Salina, G. D'Annunzio, R. Fischetto and F. Papadia

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12260

  15. Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1913–1915, Sander Pajusalu, Tiia Reimand and Katrin Õunap

    Version of Record online : 5 APR 2015, DOI: 10.1002/ajmg.a.37105

  16. Prescription patterns of inhaled corticosteroids for preschool children – A Norwegian register study

    Pediatric Allergy and Immunology

    Volume 26, Issue 7, November 2015, Pages: 655–661, Knut Øymar, Ingvild Bruun Mikalsen, Kari Furu, Wenche Nystad and Øystein Karlstad

    Version of Record online : 14 JUL 2015, DOI: 10.1111/pai.12429

  17. Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6

    Pediatric Diabetes

    Volume 15, Issue 1, February 2014, Pages: 67–72, Jennifer P Concepcion, Christina S Reh, Mark Daniels, Xiaoming Liu, Veronica P Paz, Honggang Ye, Heather M Highland, Craig L Hanis and Siri Atma W Greeley

    Version of Record online : 5 AUG 2013, DOI: 10.1111/pedi.12063

  18. Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 22, 15 November 2007, Pages: 2662–2667, Baozhong Xin, Erik Puffenberger, John Tumbush, J.R. Bockoven and Heng Wang

    Version of Record online : 15 OCT 2007, DOI: 10.1002/ajmg.a.31981

  19. Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family

    Prenatal Diagnosis

    Volume 27, Issue 2, February 2007, Pages: 117–118, Neerja Gupta, Paola Bianchi, Elisa Fermo, Madhulika Kabra, Prashant Warang, Prabhakar Kedar, Nomeeta Gupta and Roshan Colah

    Version of Record online : 27 DEC 2006, DOI: 10.1002/pd.1616

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    Expression of coinhibitory receptors on T cells in the microenvironment of usual vulvar intraepithelial neoplasia is related to proinflammatory effector T cells and an increased recurrence-free survival

    International Journal of Cancer

    Volume 136, Issue 4, 15 February, 2015, Pages: E95–E106, Edith M.G. van Esch, Mariette I.E. van Poelgeest, Simone Kouwenberg, E. Michelle Osse, J. Baptist M.Z. Trimbos, Gert Jan Fleuren, Ekaterina S. Jordanova and Sjoerd H. van der Burg

    Version of Record online : 15 SEP 2014, DOI: 10.1002/ijc.29174