检索结果 - Usha Kini

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  1. 1
    Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes

    Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes 由 Usha Kini

    出版 2005
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  2. 2
    Genetics and orofacial clefts: a clinical perspective

    Genetics and orofacial clefts: a clinical perspective 由 Usha Kini

    出版 2023
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  3. 3
    Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate

    Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate 由 George Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini

    出版 2002
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  4. 4
    Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

    Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations? 由 Adila Al‐Kindy, Nadia Chuzhanova, Usha Kini, D.N. Cooper, Meena Upadhyaya

    出版 2012
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  5. 5
    Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study

    Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study 由 G. E. Mawer, Michelle Briggs, Gus A. Baker, Rebecca Bromley, Helen Coyle, J. Eatock, Lydia Kerr, Usha Kini, L. Kuzmyshcheva, S. B. Lucas, Lynne Wyatt, Jill Clayton‐Smith

    出版 2009
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  6. 6
    A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia

    A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia 由 Leslie A. Lange, A. T. Pagnamenta, Stefano Lise, Steven Clasper, Helen Stewart, Elham Sadighi Akha, Gerardine Quaghebeur, Samantha J.L. Knight, David A. Keays, Jenny C. Taylor, Usha Kini

    出版 2016
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  7. 7
    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis 由 Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, P. Cox, Tamás Balla, Jenny C. Taylor, Usha Kini

    出版 2015
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  8. 8
    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals 由 Mira Kharbanda, Daniela T. Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Smith, John Burn, Usha Kini, Anna de Burca, David Fitzpatrick, Esther Kinning

    出版 2016
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  9. 9
    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies 由 Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays

    出版 2011
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  10. 10
    Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

    Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders 由 Alistair T. Pagnamenta, Yoshiko Murakami, John Taylor, Consuelo Anzilotti, Malcolm F. Howard, Venessa Miller, Diana Johnson, Shereen Tadros, Sahar Mansour, I. Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C. Taylor, Usha Kini

    出版 2017
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  11. 11
    Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community

    Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community 由 Harsha Rajasimha, PRASANNAKUMAR BASAYYA SHIROL, Preveen Ramamoorthy, Madhuri Hegde, SANGEETA BARDE, Vijay Chandru, M. E. RAVINANDAN, Ramani Ramchandran, Kasturi Haldar, Jimmy Lin, Imran Babar, Katta M. Girisha, Sudha Srinivasan, Duraiswamy Navaneetham, Rajani Battu, RAJASHREE DEVARAKONDA, Usha Kini, Kinnimulki Vijayachandra, Ishwar C. Verma

    出版 2014
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  12. 12
    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome 由 Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo‐Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill

    出版 2015
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  13. 13
    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

    Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation 由 Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer‐Haas, Björn Fischer‐Zirnsak, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne B. Mitchell, Stefan Mundlos, John A. Phillips, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter Krawitz

    出版 2014
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  14. 14
    Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

    Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies 由 Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, Taroh Kinoshita, Malcolm F. Howard, Monkol Lek, Brett Thomas, Anne Turner, John Christodoulou, David Sillence, Samantha J.L. Knight, Niko Popitsch, David A. Keays, Consuelo Anzilotti, Anne Goriely, Leigh B. Waddell, Fabienne Brilot, Kathryn N. North, Noriyuki Kanzawa, Daniel G. MacArthur, Jenny C. Taylor, Usha Kini, Yoshiko Murakami, Nigel F. Clarke

    出版 2015
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  15. 15
    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome

    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome 由 Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, Emma Burkitt‐Wright, Hilary C. Martin, Matteo P. Ferla, John Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton‐Brown, Ruth Newbury‐Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D. Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, Edward Blair, Jenny C. Taylor, Helen Stewart

    出版 2019
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  16. 16
    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly 由 Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Blanca Gener, Gabriele Gillessen‐Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gülen Eda Ütine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar Lohmann, Ute Hehr, Detlef Böhm, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

    出版 2012
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  17. 17
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes 由 Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    出版 2018
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  18. 18
    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice 由 Aia Elise Jønch, Élise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, R. Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurélie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne‐Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke S. Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch‐Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont

    出版 2019
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  19. 19
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 由 Hemant Bengani, Mark T. Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, Malin Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton‐Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker, David Fitzpatrick

    出版 2017
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  20. 20
    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

    The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature 由 Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Mélanie Fradin, Yline Capri, Delphine Héron, Marie‐Christine Nouguès, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair T. Pagnamenta, Jenny C. Taylor, Yoshimi Sogawa, Diana Johnson, Helen V. Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux‐Boucher, M. Kœnig, Cyril Mignot, Usha Kini, Christophe Philippe

    出版 2018
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