Ngā hua rapu kaituhi

1

The Coffin-Lowry syndrome. mā I D Young

I whakaputaina 1988

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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2

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

I whakaputaina 1982

Whiwhi kuputuhi katoa
Artigo

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3

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

I whakaputaina 1980

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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4

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

I whakaputaina 1986

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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5

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

I whakaputaina 1995

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

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

I whakaputaina 1987

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

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

I whakaputaina 1982

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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8

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

I whakaputaina 1982

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

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

I whakaputaina 1985

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

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

I whakaputaina 1996

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

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

I whakaputaina 1996

Whiwhi kuputuhi katoa
Artigo

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12

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

I whakaputaina 1998

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

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

I whakaputaina 1986

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

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

I whakaputaina 2000

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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15

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

I whakaputaina 2022

Whiwhi kuputuhi katoa
Artigo

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16

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

I whakaputaina 2003

Whiwhi kuputuhi katoa
Artigo

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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... mā 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

I whakaputaina 2016

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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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 mā 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

I whakaputaina 1999

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

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

I whakaputaina 2003

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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20

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

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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Ngā hua rapu - I D Young

The Coffin-Lowry syndrome. mā I D Young

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

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

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

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

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

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

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

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

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. mā 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 mā 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. mā 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 mā 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 mā 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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