Iskani rezultati za avtorja

1

The Coffin-Lowry syndrome. od I D Young

Izdano 1988

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2

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

Izdano 1982

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3

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

Izdano 1980

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4

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

Izdano 1986

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5

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

Izdano 1995

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6

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

Izdano 1987

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7

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

Izdano 1982

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8

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

Izdano 1982

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9

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

Izdano 1985

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10

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

Izdano 1996

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11

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

Izdano 1996

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12

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

Izdano 1998

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13

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

Izdano 1986

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14

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

Izdano 2000

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15

Structural basis for context-specific inhibition of translation by oxazolidinone antibiotics od 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

Izdano 2022

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16

Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome od 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

Izdano 2003

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17

Structural changes correlated with magnetic spin state isomorphism in the S2 state of the Mn4CaO5 cluster in the oxygen-evolving complex of photosy... od 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

Izdano 2016

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18

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly od 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

Izdano 1999

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19

Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome od 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

Izdano 2003

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20

Structural dynamics in the water and proton channels of photosystem II during the S2 to S3 transition od 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

Izdano 2021

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Rezultati - I D Young

The Coffin-Lowry syndrome. od I D Young

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

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

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

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

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

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

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

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

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

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

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

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

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

Structural basis for context-specific inhibition of translation by oxazolidinone antibiotics od 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

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