Resultats de la cerca - I D Young

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  1. 1
    The Coffin-Lowry syndrome.

    The Coffin-Lowry syndrome. per I D Young

    Publicat 1988
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  2. 2
    Mild form of Hunter's syndrome: clinical delineation based on 31 cases.

    Mild form of Hunter's syndrome: clinical delineation based on 31 cases. per I D Young, P.S. Harper

    Publicat 1982
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  3. 3
    Hereditary distal spinal muscular atrophy with vocal cord paralysis.

    Hereditary distal spinal muscular atrophy with vocal cord paralysis. per I.D. Young, Peter S. Harper

    Publicat 1980
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  4. 4
    Changing demography of trisomy 18.

    Changing demography of trisomy 18. per I D Young, James Phillip Cook, Laxmi S. Mehta

    Publicat 1986
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  5. 5
    A clinical and genetic study of campomelic dysplasia.

    A clinical and genetic study of campomelic dysplasia. per Salah Mansour, C. Michael Hall, Marcus Pembrey, I D Young

    Publicat 1995
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  6. 6
    Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

    Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. per Elizabeth M. Thompson, I D Young, C. Michael Hall, Marcus Pembrey

    Publicat 1987
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  7. 7
    A clinical and genetic study of Hunter's syndrome. 1 Heterogeneity

    A clinical and genetic study of Hunter's syndrome. 1 Heterogeneity per I D Young, P.S. Harper, Irene M. Archer, Robert G. Newcombe

    Publicat 1982
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  8. 8
    A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms

    A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms per I D Young, P.S. Harper, Robert G. Newcombe, Irene M. Archer

    Publicat 1982
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  9. 9
    Amniotic bands in connective tissue disorders.

    Amniotic bands in connective tissue disorders. per I D Young, R H Lindenbaum, Elizabeth M. Thompson, Marcus Pembrey

    Publicat 1985
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  10. 10
    Holt-Oram syndrome: a clinical genetic study.

    Holt-Oram syndrome: a clinical genetic study. per Ruth Newbury‐Ecob, R Leanage, J. A. Raeburn, I.D. Young

    Publicat 1996
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  11. 11
    Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

    Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. per Sara J. Edwards, A. Fowlie, MP Cust, D T Liu, I D Young, Michael J. Dixon

    Publicat 1996
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  12. 12
    Inactivating Mutation in the Human Parathyroid Hormone Receptor Type 1 Gene in Blomstrand Chondrodysplasia

    Inactivating Mutation in the Human Parathyroid Hormone Receptor Type 1 Gene in Blomstrand Chondrodysplasia per Andrew C. Karaplis, Bin He, Matthew Nguyen, I D Young, D Semeraro, Hidehiro Ozawa, Norio Amizuka

    Publicat 1998
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  13. 13
    The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

    The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. per Dian Donnai, I D Young, W. Geoffrey Owen, Steve Clark, Patrick F. Miller, W.F. Knox

    Publicat 1986
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  14. 14
    Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes

    Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes per Joseph G. Gleeson, Sharon Minnerath, Ruben Kuzniecky, William B. Dobyns, I D Young, M. Elizabeth Ross, Christopher A. Walsh

    Publicat 2000
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  15. 15
    Structural basis for context-specific inhibition of translation by oxazolidinone antibiotics

    Structural basis for context-specific inhibition of translation by oxazolidinone antibiotics per Kaitlyn Tsai, Vanja Stojković, D. John Lee, I.D. Young, Teresa Szal, Dorota Klepacki, Nora Vázquez‐Laslop, Alexander S. Mankin, James S. Fraser, Danica Galonić Fujimori

    Publicat 2022
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  16. 16
    Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

    Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome per Víctor L. Ruiz‐Pérez, Stuart W. Tompson, J. Helen Blair, Cecilia Espinoza‐Valdez, Pablo Lapunzina, Elias O. Silva, Ben C.J. Hamel, John L. Gibbs, I D Young, Michael Wright, Judith A. Goodship

    Publicat 2003
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  17. 17
    Structural changes correlated with magnetic spin state isomorphism in the S<sub>2</sub> state of the Mn<sub>4</sub>CaO<sub>5</sub> cluster in the oxygen-evolving complex of photosystem II

    Structural changes correlated with magnetic spin state isomorphism in the S<sub>2</sub> state of the Mn<sub>4</sub>CaO<sub>5</sub> cluster in the oxygen-evolving complex of photosy... per Ruchira Chatterjee, Guangye Han, Jan Kern, Sheraz Gul, Franklin D. Fuller, Anna Garachtchenko, I.D. Young, Tsu-Chien Weng, Dennis Nordlund, Roberto Alonso‐Mori, Uwe Bergmann, Dimosthenis Sokaras, Makoto Hatakeyama, Vittal K. Yachandra, Junko Yano

    Publicat 2016
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  18. 18
    The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

    The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly per Luisa Nanni, Jeffrey E. Ming, Maureen Bocian, Kathryn A. Steinhaus, Diana W. Bianchi, Christine de Die‐Smulders, Aldo Giannotti, K Imaizumi, Kenneth Lyons Jones, Miguel Del Campo, R. A. Martin, P. Meinecke, Mary Ella Pierpont, Nathaniel H. Robin, I.D. Young, Erich Roessler, Maximilian Muenke

    Publicat 1999
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  19. 19
    Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome

    Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome per Wendy Lim, Nicholas Hearle, Bindiya Shah, Victoria Murday, S V Hodgson, Anneke Lucassen, Diana Eccles, I C Talbot, Kay Neale, Aaron G. Lim, J. O’Donohue, Alan Donaldson, R. C. Macdonald, I.D. Young, Martin Robinson, P W R Lee, B J Stoodley, Ian Tomlinson, Derek Alderson, A G Holbrook, Shraddha Vyas, E T Swarbrick, A A M Lewis, R K S Phillips, Richard S. Houlston

    Publicat 2003
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  20. 20
    Structural dynamics in the water and proton channels of photosystem II during the S2 to S3 transition

    Structural dynamics in the water and proton channels of photosystem II during the S2 to S3 transition per Rana Hussein, Mohamed Ibrahim, Asmit Bhowmick, Philipp S. Simon, Ruchira Chatterjee, Louise Lassalle, Margaret Doyle, Isabel Bogacz, In‐Sik Kim, Mun Hon Cheah, Sheraz Gul, Casper de Lichtenberg, Petko Chernev, Cindy C. Pham, I.D. Young, Sergio Carbajo, Franklin D. Fuller, Roberto Alonso‐Mori, Alex Batyuk, Kyle D. Sutherlin, Aaron S. Brewster, Robert Bolotovsky, Derek Mendez, James M. Holton, Nigel W. Moriarty, Paul D. Adams, Uwe Bergmann, Nicholas K. Sauter, Holger Dobbek, Johannes Messinger, Athina Zouni, Jan Kern, Vittal K. Yachandra, Junko Yano

    Publicat 2021
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