Canlyniadau Chwilio - Katrin Õunap

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  1. 1
    Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

    Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions gan Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein‐Hitpaß, Deniz Kanber, Katrin Õunap, Marc Kaulisch, Dietmar Lohmann

    Cyhoeddwyd 2011
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  2. 2
    Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

    Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity gan Emily Brookes, Benoît Laurent, Katrin Õunap, Renée Carroll, John B. Moeschler, Michael Field, Charles E. Schwartz, Jozef Gécz, Yang Shi

    Cyhoeddwyd 2015
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  3. 3
    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia gan Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

    Cyhoeddwyd 2018
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  4. 4
    Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

    Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes gan Deborah Bartholdi, Małgorzata Krajewska‐Walasek, Katrin Õunap, H. Gaspar, Krystyńa Chrzańowska, H Ilyana, Hülya Kayserili, Iosif W. Lurie, Albert Schinzel, Alessandra Baumer

    Cyhoeddwyd 2008
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  5. 5
    A missense mutation in the catalytic domain of <i>O</i>‐GlcNAc transferase links perturbations in protein <i>O</i>‐GlcNAcylation to X‐linked intellectual disability

    A missense mutation in the catalytic domain of <i>O</i>‐GlcNAc transferase links perturbations in protein <i>O</i>‐GlcNAcylation to X‐linked intellectual disability gan Veronica M. Pravatà, Mehmet Gundogdu, Sergio G. Bartual, Andrew T. Ferenbach, Marios P. Stavridis, Katrin Õunap, Sander Pajusalu, Riina Žordania, Monica H. Wojcik, Daan M. F. van Aalten

    Cyhoeddwyd 2019
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  6. 6
    Recommendations for reporting results of diagnostic genomic testing

    Recommendations for reporting results of diagnostic genomic testing gan Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira, Elisabeth Dequeker, Mick Henderson, Luca Lovrečić, Katrin Õunap, Melody Tabiner, Rebecca J. L. Treacy, Christi J. van Asperen

    Cyhoeddwyd 2022
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  7. 7
    Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

    Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG gan Peter Witters, Shawn Tahata, Rita Barone, Katrin Õunap, Ramona Salvarinova, Sabine Grønborg, George Hoganson, Fernando Scaglia, Andrea M. Lewis, Mari Mori, Jolanta Sykut‐Cegielska, Andrew C. Edmondson, Miao He, Éva Morava

    Cyhoeddwyd 2020
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  8. 8
    An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

    An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase gan Veronica M. Pravatà, Michaela Omelková, Marios P. Stavridis, Chelsea Desbiens, Hannah Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells, Daan M. F. van Aalten

    Cyhoeddwyd 2020
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  9. 9
    Fertility in adult women with classic galactosemia and primary ovarian insufficiency

    Fertility in adult women with classic galactosemia and primary ovarian insufficiency gan Britt van Erven, Gerard T. Berry, David Cassiman, Geraldine Connolly, María Forga, Matthias Gautschi, Cynthia S. Gubbels, Carla E. M. Hollak, Mirian C. H. Janssen, Ina Knerr, Philippe Labrune, Janneke G. Langendonk, Katrin Õunap, Abel Thijs, Rein Vos, Saskia B. Wortmann, M. Estela Rubio‐Gozalbo

    Cyhoeddwyd 2017
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  10. 10
    Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration

    Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration gan Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan J. Vílchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt‐Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

    Cyhoeddwyd 2023
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  11. 11
    Human skeletal myopathy myosin mutations disrupt myosin head sequestration

    Human skeletal myopathy myosin mutations disrupt myosin head sequestration gan Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan J. Vílchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt‐Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

    Cyhoeddwyd 2023
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  12. 12
    WNT signalling control by KDM5C during development affects cognition

    WNT signalling control by KDM5C during development affects cognition gan Violetta Karwacki-Neisius, Ahram Jang, Engin Cukuroglu, Albert Tai, Alan Jiao, Danilo Predes, Joon Yoon, Emily Brookes, Jiekai Chen, Aimee Iberg, Florian Halbritter, Katrin Õunap, Jozef Gécz, Thorsten M. Schlaeger, Shannan Ho Sui, Jonathan Göke, Xi He, Maria K. Lehtinen, Scott L. Pomeroy, Yang Shi

    Cyhoeddwyd 2024
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  13. 13
    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

    Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression gan Samira Achouitar, Miski Mohamed, Thatjana Gardeitchik, Saskia B. Wortmann, Jolanta Sykut‐Cegielska, Regina Ensenauer, Hélène Ogier de Baulny, Katrin Õunap, Diego Martinelli, Maaike de Vries, Robert McFarland, Dorus Kouwenberg, Miranda Theodore, Frits A. Wijburg, Stephanie Grünewald, Jaak Jaeken, Ron A. Wevers, Leo Nijtmans, Joanna L. Elson, Éva Morava

    Cyhoeddwyd 2011
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  14. 14
    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

    Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature gan Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia

    Cyhoeddwyd 2020
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  15. 15
    Diffuse hypomyelination is not obligate for POLR3-related disorders

    Diffuse hypomyelination is not obligate for POLR3-related disorders gan Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias B. Haack, Evangeline Wassmer, Dagmar Timmann, Hanna Mierzewska, Bwee Tien Poll‐The, Chirag Patel, Helen Cox, Tahir Atık, Hüseyin Önay, Ferda Özkınay, Adeline Vanderver, Marjo S. van der Knaap, Nicole I. Wolf, Geneviève Bernard

    Cyhoeddwyd 2016
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  16. 16
    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus gan Joséphine Mayer, Emma M. Jenkinson, Paul R. Kasher, Stavros Stivaros, Andrea Berger, Duccio Maria Cordelli, Patrick Ferreira, Rosalind J Jefferson, G Kutschke, Staffan Lundberg, Katrin Õunap, Prab Prabhakar, Calvin Soh, Helen Stewart, Jon Stone, Marjo S. van der Knaap, Hilde Van Esch, Christine Van Mol, Emma Wakeling, Andrea Whitney, Gillian Rice, Yanick J. Crow, John H. Livingston

    Cyhoeddwyd 2014
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  17. 17
    FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

    FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study gan Anu Suomalainen, Jenni M. Elo, Kirsi H. Pietiläinen, Anna H. Hakonen, Ksenia Sevastianova, Mari Korpela, Pirjo Isohanni, Sanna Marjavaara, Tiina Tyni, Sari Kiuru‐Enari, Helena Pihko, Niklas Darín, Katrin Õunap, Leo A. J. Kluijtmans, Anders Paetau, Jana Buzková, Laurence A. Bindoff, Johanna Annunen‐Rasila, Johanna Uusimaa, Aila Rissanen, Hannele Yki‐Järvinen, Michio Hirano, M. Tulinius, Jan Smeitink, Henna Tyynismaa

    Cyhoeddwyd 2011
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  18. 18
    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up

    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up gan Lindsey Welling, Laurie Bernstein, Gerard T. Berry, Alberto Burlina, François Eyskens, Matthias Gautschi, Stephanie Grünewald, Cynthia S. Gubbels, Ina Knerr, Philippe Labrune, Johanna H. van der Lee, Anita MacDonald, Elaine Murphy, P. A. Portnoi, Katrin Õunap, Nancy L. Potter, M. Estela Rubio‐Gozalbo, Jessica B. Spencer, Inge Timmers, Eileen P. Treacy, Sandra C. Van Calcar, Susan E. Waisbren, Annet M. Bosch

    Cyhoeddwyd 2016
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  19. 19
    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations gan Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Colin A. Chapman, Alison Colley, Helena Rocha, Katrin Õunap, Raphael Schiffmann, Ettore Salsano, M. Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap

    Cyhoeddwyd 2014
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  20. 20
    Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

    Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number gan Kyle Thompson, Homa Majd, Cristina Dallabona, Karit Reinson, Martin S. King, Charlotte L. Alston, Langping He, Tiziana Lodi, Simon Jones, Aviva Fattal‐Valevski, Nitay Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Sanna Puusepp, Penelope E. Bonnen, Richard J. Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R.S. Kunji, Robert W. Taylor

    Cyhoeddwyd 2016
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