檢索結果 - William Reardon

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  1. 1
    Craniosynostosis. Diagnosis, evaluation and management.

    Craniosynostosis. Diagnosis, evaluation and management. 由 William Reardon

    出版 2000
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  2. 2
    Pendred syndrome--100 years of underascertainment?

    Pendred syndrome--100 years of underascertainment? 由 William Reardon

    出版 1997
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  3. 3
    Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

    Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 由 William Reardon

    出版 2000
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  4. 4
    A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

    A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association 由 William Reardon

    出版 2001
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  5. 5
    Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene

    Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene 由 William Reardon

    出版 2000
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  6. 6
    Saethre-Chotzen syndrome.

    Saethre-Chotzen syndrome. 由 William Reardon, R M Winter

    出版 1994
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  7. 7
    A review of filamin A mutations and associated interstitial lung disease

    A review of filamin A mutations and associated interstitial lung disease 由 Erina Sasaki, Angela Byrne, Ethna Phelan, D. Cox, William Reardon

    出版 2018
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  8. 8
    The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects.

    The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. 由 William Reardon, R. Newcombe, Iain Fenton, J R Sibert, Peter S. Harper

    出版 1993
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  9. 9
    FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)

    FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG) 由 Miriam Entesarian, Johanna Dahlqvist, Vandana Shashi, Christy Stanley, Babak Falahat, William Reardon, Niklas Dahl

    出版 2007
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  10. 10
    Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families

    Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families 由 Frances R. Goodman, M. L. Giovannucci-Uzielli, Christine M Hall, William Reardon, Robin Winter, Peter Scambler

    出版 1998
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  11. 11
    A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

    A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 由 David Wilkes, Paul Rutland, Louise J. Pulleyn, William Reardon, Celia Moss, J. Ellis, R M Winter, S Malcolm

    出版 1996
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  12. 12
    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... 由 Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton‐Smith, Sofia Douzgou

    出版 2017
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  13. 13
    Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement

    Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement 由 Annagiusi Gargiulo, Renata Auricchio, Maria Vittoria Barone, Gabriella Cotugno, William Reardon, Peter J. Milla, Andrea Ballabio, Alfredo Ciccodicola, Alberto Auricchio

    出版 2007
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  14. 14
    Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

    Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes 由 Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith, Martin J. Carette, Julia D. Grant, N R Dennis, William Reardon, Miranda Splitt, Andrew Read, D Donnai

    出版 1999
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  15. 15
    A survey of assisted reproductive technology births and imprinting disorders

    A survey of assisted reproductive technology births and imprinting disorders 由 Sarah Bowdin, Cathy Allen, Gail Kirby, Louise Brueton, Masoud Afnan, Christopher L. R. Barratt, Jackson Kirkman‐Brown, Robert F. Harrison, Eamonn R. Maher, William Reardon

    出版 2007
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  16. 16
    Assisted reproductive therapies and imprinting disorders—a preliminary British survey

    Assisted reproductive therapies and imprinting disorders—a preliminary British survey 由 Alastair Sutcliffe, Catherine Peters, Sarah Bowdin, I. Karen Temple, William Reardon, Lisa M Wilson, Jill Clayton‐Smith, L A Brueton, Wendy Bannister, Eamonn R. Maher

    出版 2005
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  17. 17
    Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

    Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis 由 Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, Walter L. Miller

    出版 2005
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  18. 18
    Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum

    Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum 由 Ilan Gobius, Laura Morcom, Rodrigo Suárez, Jens Bunt, Polina Bukshpun, William Reardon, William B. Dobyns, John L.R. Rubenstein, A. James Barkovich, Elliott H. Sherr, Linda J. Richards

    出版 2016
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  19. 19
    Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

    Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss 由 Mark Houseman, Lucy Ellis, Alistair T. Pagnamenta, Wei‐Li Di, Sarah Rickard, Amelia H. Osborn, H Dahl, Graham R. Taylor, M. Bitner-Glindzicz, William Reardon, R F Mueller, David P. Kelsell

    出版 2001
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  20. 20
    Novel clinical and genetic insight into CXorf56-associated intellectual disability

    Novel clinical and genetic insight into CXorf56-associated intellectual disability 由 María Eugenia Rocha, Tainá Regina Damaceno Silveira, Erina Sasaki, Daíse Moreno Sás, Charles Marques Lourenço, Krishna Kumar Kandaswamy, Christian Beetz, Arndt Rolfs, Peter Bauer, William Reardon, Aida M. Bertoli‐Avella

    出版 2019
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