Canlyniadau Chwilio - Jaakko Ignatius

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Mireinio'r Canlyniadau
  1. 1
    Pitt-Hopkins Syndrome

    Pitt-Hopkins Syndrome gan Maarit Peippo, Jaakko Ignatius

    Cyhoeddwyd 2011
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  2. 2
    Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

    Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype gan Louise J. Campbell, Allyson C. Potter, Jaakko Ignatius, Victor Dubowitz, Kay E. Davies

    Cyhoeddwyd 1997
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  3. 3
    Gene deletions in spinal muscular atrophy.

    Gene deletions in spinal muscular atrophy. gan Nanda R. Rodrigues, Nicholas Owen, Kevin Talbot, Shobna Patel, Francesco Muntoni, Jaakko Ignatius, Victor Dubowitz, Kay E. Davies

    Cyhoeddwyd 1996
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  4. 4
    Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies

    Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies gan Kaisa Silander, Päivi Meretoja, Vesa Juvonen, Jaakko Ignatius, Helena Pihko, Ari Saarinen, Tiina Wallden, Eila Herrgård, Perttì Aula, Marja‐Liisa Savontaus

    Cyhoeddwyd 1998
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  5. 5
    Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

    Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease gan Heidi O. Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva, Leena Peltonen

    Cyhoeddwyd 2008
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  6. 6
    Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

    Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population gan Elina Laiho, Jaakko Ignatius, Hanna Mikkola, Vivien C. Yee, David C. Teller, Kirsti‐Maria Niemi, Ulpu Saarialho‐Kere, Juha Kere, Aarno Palotie

    Cyhoeddwyd 1997
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  7. 7
    Genetic Control of Serum IgE Levels and Asthma: Linkage and Linkage Disequilibrium Studies in an Isolated Population

    Genetic Control of Serum IgE Levels and Asthma: Linkage and Linkage Disequilibrium Studies in an Isolated Population gan Tarja Laitinen, Paula Kauppi, Jaakko Ignatius, Teemu Ruotsalainen, Mark Daly, H Kääriäinen, Leonid Kruglyak, H. Laitinen, Albert de la Chapelle, Eric S. Lander, L. A. Laitinen, Juha Kere

    Cyhoeddwyd 1997
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  8. 8
    Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

    Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males gan Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, Mieke Jansen, Martine Raynaud, Karen Hollanders, Dorien Lugtenberg, Thierry Bienvenu, Lars Riff Jensen, Jozef Gécz, Claude Moraine, Peter Marynen, Jean‐Pierre Fryns, Guy Froyen

    Cyhoeddwyd 2005
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  9. 9
    Nonrecurrent <i>MECP2</i> duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

    Nonrecurrent <i>MECP2</i> duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair gan Marijke Bauters, Hilde Van Esch, Michael J. Friez, Odile Boespflug‐Tanguy, Martin Zenker, Angela Maria Vianna‐Morgante, Carla Rosenberg, Jaakko Ignatius, Martine Raynaud, Karen Hollanders, Karen Govaerts, Kris Vandenreijt, Florence Niel, Pierre Blanc, Roger E. Stevenson, Jean‐Pierre Fryns, Peter Marynen, Charles E. Schwartz, Guy Froyen

    Cyhoeddwyd 2008
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  10. 10
    Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort

    Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort gan Christoffer Löf, Konrad Patyra, Teemu Kuulasmaa, Jagadish Vangipurapu, Henriette Undeutsch, Holger Jaeschke, Tuulia Pajunen, Andreina Kero, Heiko Krude, Heike Biebermann, Gunnar Kleinau, Peter Kühnen, Krista Rantakari, Päivi J. Miettinen, Turkka Kirjavainen, Juha‐Pekka Pursiheimo, Taina Mustila, Jarmo Jääskeläinen, Marja Ojaniemi, Jorma Toppari, Jaakko Ignatius, Markku Laakso, Jukka Kero

    Cyhoeddwyd 2016
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  11. 11
    Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

    Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. gan A K Ryan, Judith A. Goodship, David I. Wilson, N. Philip, A. Lévy, H. Seidel, Simone Schuffenhauer, H Oechsler, B. H. Belohradsky, M Prieur, Alain Aurias, F. Lucy Raymond, Jill Clayton‐Smith, Eli Hatchwell, C McKeown, F. A. Beemer, Bruno Dallapiccola, Giuseppe Novelli, J A Hurst, Jaakko Ignatius, Andrew Green, R M Winter, L A Brueton, Karen Brøndum‐Nielsen, Peter Scambler

    Cyhoeddwyd 1997
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  12. 12
    Update on Kleefstra Syndrome

    Update on Kleefstra Syndrome gan Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen, W.M. Wissink-Lindhout, Hans van Bokhoven, N. Philip, Elizabeth Berry‐Kravis, Usha Kini, Conny M.A. van Ravenswaaij‐Arts, Barbara Delle Chiaie, A. Micheil Innes, Gunnar Houge, T Kosonen, Kirsten Cremer, Madeleine Fannemel, Asbjørg Stray‐Pedersen, William Reardon, Jaakko Ignatius, Katherine Lachlan, Clotilde Mircher, P.T.J.M. Helderman van den Enden, Mathilde Mastebroek, Petra E. Cohn‐Hokke, Helger G. Yntema, Séverine Drunat, Tjitske Kleefstra

    Cyhoeddwyd 2011
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  13. 13
    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development gan Richard S. Smith, Connor Kenny, Vijay Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, Robert Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Anna‐Kaisa Anttonen, Jaakko Ignatius, Līvija Medne, Carsten G. Bönnemann, Jonathan L. Hecht, Oili Salonen, A. James Barkovich, Annapurna Poduri, Martina Wilke, Marie‐Claire Y. de Wit, Grazia M.S. Mancini, László Sztriha, Kiho Im, Dina Amrom, Eva Andermann, Ritva Paetau, Anna‐Elina Lehesjoki, Christopher A. Walsh, Maria K. Lehtinen

    Cyhoeddwyd 2018
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  14. 14
    Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

    Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy gan John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake, Massimo Attanasio, Edgar A. Otto, Dominik Seelow, Gudrun Nürnberg, Christian Becker, Matti Nuutinen, Mikko Kärppä, Jaakko Ignatius, Johanna Uusimaa, Salla Pakanen, E. Jaakkola, Lambertus P. van den Heuvel, Henry Fehrenbach, Roger C. Wiggins, Meera Goyal, Weibin Zhou, Matthias T. F. Wolf, Eric L. Wise, Juliana Helou, Susan J. Allen, Carlos Murga‐Zamalloa, Shazia Ashraf, Moumita Chaki, Saskia F. Heeringa, Gil Chernin, Bethan E. Hoskins, Hassan Chaı̈b, Joseph G. Gleeson, Takehiro Kusakabe, Takako Suzuki, R. Elwyn Isaac, Lynne M. Quarmby, Bryan Tennant, Hisashi Fujioka, Hannu Tuominen, Ilmo E. Hassinen, Hannes Lohi, Judith L. Van Houten, Agnès Rötig, John A. Sayer, Boris Rolinski, Peter Freisinger, Sethu M. Madhavan, Martina Herzer, Florence Madignier, Holger Prokisch, Peter Nürnberg, Peter K. Jackson, Hemant Khanna, Nicholas Katsanis, Friedhelm Hildebrandt

    Cyhoeddwyd 2010
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