Результаты поиска - Anne Katrin Lampe

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  1. 1
    Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

    Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy по Anne Katrin Lampe

    Опубликовано 2005
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    Artigo
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  2. 2
    Inherited Pain

    Inherited Pain по Mirjam Eberhardt, Julika Nakajima, Alexandra B. Klinger, Cristian Neacsu, Kathrin Hühne, Andrias O. O’Reilly, Andreas M. Kist, Anne Katrin Lampe, Kerstin Fischer, Jane Gibson, Carla Nau, Andreas Winterpacht, Angelika Lampert

    Опубликовано 2013
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    Artigo
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  3. 3
    Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

    Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome по Anna Richards, Elizabeth J. Kemp, M. Kathryn Liszewski, Judith A. Goodship, Anne Katrin Lampe, Ronny Decorte, M. Hamza Müslümanogğlu, Salìh Kavukçu, Guido Filler, Yves Pirson, Leana S. Wen, John P. Atkinson, Timothy H.J. Goodship

    Опубликовано 2003
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    Artigo
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  4. 4
    Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

    Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance по Anne Katrin Lampe, Yaqun Zou, D. Sudano, Kirsty O’Brien, Debbie Hicks, Steven H. Laval, Richard Charlton, C. Jimenez‐Mallebrera, Ruoyu Zhang, Richard S. Finkel, G. Tennekoon, Gudrun Schreiber, Marjo S. van der Knaap, Harold Marks, Volker Straub, Kevin M. Flanigan, Mon‐Li Chu, Francesco Muntoni, Kate Bushby, Carsten G. Bönnemann

    Опубликовано 2008
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    Artigo
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  5. 5
    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

    Heterozygous truncation mutations of the <i><scp>SMC</scp>1A</i> gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases по Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, Sameer M. Zuberi

    Опубликовано 2017
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    Artigo
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  6. 6
    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability по Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri

    Опубликовано 2017
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    Artigo
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  7. 7
    Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

    Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome по Alexander G. Marneros, Anita Beck, Emily H. Turner, Margaret J. McMillin, Matthew Edwards, Michael Field, Nara Sobreira, Ana Beatriz Alvarez Pérez, José Augusto Ribas Fortes, Anne Katrin Lampe, Maria Luisa Giovannucci Uzielli, Christopher T. Gordon, Ghislaine Plessis, Martine Le Merrer, Jeanne Amiel, Ernst Reichenberger, Kathryn M. Shively, Felecia Cerrato, Brian I. Labow, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Опубликовано 2013
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    Artigo
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  8. 8
    <i>CDK4</i>loss-of-function mutations cause microcephaly and short stature

    <i>CDK4</i>loss-of-function mutations cause microcephaly and short stature по Aitana Verdu Schlie, Andrea Leitch, Maria Izabel Arismendi, Colin Stok, Andrea Castro Leal, David Parry, Antônio Marcondes Lerário, Margaret E Harley, Bruna Lucheze, Paula L. Carroll, Kamila Irena Musialik, Julia M. T. Auer, Carol-Anne Martin, Lukas Gerasimavicius, Alan J. Quigley, Joya Emilie de Menezes Correia-Deur, Joseph A. Marsh, Martin A.M. Reijns, Anne Katrin Lampe, Andrew P. Jackson, Alexander A.L. Jorge, Lukas Tamayo-Orrego

    Опубликовано 2025
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    Artigo
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  9. 9
    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

    Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis по Stephen R.F. Twigg, Elena Vorgia, Simon J. McGowan, Ioanna Peraki, Aimée L Fenwick, Vikram Sharma, Maryline Allégra, Ανδρέας Ζαραγκούλιας, Elham Sadighi Akha, Samantha J.L. Knight, Helen Lord, Tracy Lester, Louise Izatt, Anne Katrin Lampe, Shehla Mohammed, Fiona J. Stewart, Alain Verloès, Louise C. Wilson, Chris Healy, Paul T. Sharpe, Peter Hammond, Jim R. Hughes, Stephen Taylor, David Johnson, Steven A. Wall, George Mavrothalassitis, Andrew O.M. Wilkie

    Опубликовано 2013
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    Artigo
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  10. 10
    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder по Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka

    Опубликовано 2017
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    Artigo
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  11. 11
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... по Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Опубликовано 2019
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    Artigo
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  12. 12
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism по Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    Опубликовано 2014
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    Artigo
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  13. 13
    Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

    Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing по Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy F. McRae, Tomas Fitzgerald, Tarjinder Singh, G. Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul‐Khaliq, Siddharth Banka, Ulrike Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu’Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba Louw, Ashok Kumar Manickara, Dorin Manase, Karen McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury‐Ecob, Seham Osman Babiker Omer, Willem H. Ouwehand, Soo‐Mi Park, Michael Parker, Thomas Pickardt, Martin Pollard, Leema Robert, David J. Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E.F. Daubeney, Bernard Keavney, Judith Goodship, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Koenraad Devriendt, David Fitzpatrick, J. David Brook, Matthew E. Hurles

    Опубликовано 2016
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    Artigo
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