Iskani rezultati za avtorja

1

The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome od Charles E. Schwartz, Roger E. Stevenson

Izdano 2007

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2

Considering the Embryopathogenesis of VACTERL Association od Roger E. Stevenson, Alasdair G. W. Hunter

Izdano 2013

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3

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery od Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

Izdano 2012

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4

Menkes disease: a biochemical abnormality in cultured human fibroblasts. od T J Goka, Roger E. Stevenson, Patrick M. Hefferan, R. Rodney Howell

Izdano 1976

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5

X‐linked intellectual disability update 2017 od Giovanni Neri, Charles E. Schwartz, Herbert A. Lubs, Roger E. Stevenson

Izdano 2018

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6

Elements of morphology: Standard terminology for the nose and philtrum od Raoul C. M. Hennekam, Valérie Cormier‐Daire, Judith G. Hall, K Méhes, Michael A. Patton, Roger E. Stevenson

Izdano 2009

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7

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes od Tejasvi Niranjan, Cindy Skinner, Melanie May, Tychele N. Turner, Rebecca Rose, Roger E. Stevenson, Charles E. Schwartz, Tao Wang

Izdano 2015

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8

Mutations in the planar cell polarity genes<i>CELSR1</i>and<i>SCRIB</i>are associated with the severe neural tube defect craniorachischisis od Alexis Robinson, Sarah Escuin, Kit Doudney, Michel Vekemans, Roger E. Stevenson, Nicholas D. E. Greene, Andrew J. Copp, Philip Stanier

Izdano 2011

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9

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands od Sara Cathey, J. G. Leroy, Tim Wood, Karissa Eaves, Richard J. Simensen, M. Kudo, Roger E. Stevenson, Michael J. Friez

Izdano 2009

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10

$A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.$

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. od Lisbeth Tranebjærg, Charles E. Schwartz, H Eriksen, Sten Andréasson, Vesna Ponjavic, Andrew Dahl, Roger E. Stevenson, Melanie May, Fernando Arena, David Barker

Izdano 1995

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11

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia od Fatima Abidi, Lynda Holloway, C. A. Moore, David D. Weaver, Richard J. Simensen, Roger E. Stevenson, R. Curtis Rogers, Charles E. Schwartz

Izdano 2008

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12

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder od Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly L. Jones, Cindy Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto

Izdano 2019

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13

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27 od Arnold L. Christianson, Roger E. Stevenson, C. H. van der Meyden, J. Pelser, F. W. Theron, P. L. van Rensburg, Mr Christopher Chandler, CE Schwartz

Izdano 1999

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14

Decreased tryptophan metabolism in patients with autism spectrum disorders od Luigi Boccuto, Chin‐Fu Chen, Ayla R Pittman, Cindy Skinner, Heather McCartney, Kelly A. Jones, Barry R. Bochner, Roger E. Stevenson, Charles E. Schwartz

Izdano 2013

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15

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor od N.German Pasteris, Amy B. Cadle, Lindsay J. Logie, Mary Porteous, Charles E. Schwartz, Roger E. Stevenson, Thomas W. Glover, R. Sid Wilroy, Jerome L. Gorski

Izdano 1994

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16

Shashi XLMR syndrome: Report of a second family od Nelson H. C. Castro, Rita de Cássia Stocco, Retecher Nelson, Willy Beçak, Bernhard Häne, C.J. Lindsey, Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

Izdano 2003

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17

Stocco dos Santos X‐linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3 od Rita de Cássia Stocco, Nelson H. C. Castro, Anthony Holmes, Willy Beçak, Darci Tackels‐Horne, C.J. Lindsey, Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

Izdano 2003

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18

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome od A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, Tim Wood, Kenton R. Holden, Herbert A. Lubs, Francisco Martı́nez, Richard J. Simensen, Roger E. Stevenson, Anthony E. Pegg, Charles E. Schwartz

Izdano 2003

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19

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition od James Garbern, Manuela Neumann, John Q. Trojanowski, Virginia M.‐Y. Lee, Gerald L. Feldman, Joy Norris, Michael J. Friez, Charles E. Schwartz, Roger E. Stevenson, Anders A. F. Sima

Izdano 2010

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20

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity od Kyoko Takano, Dan Liu, Patrick Tarpey, Esther M. Gallant, Alexander Lam, Shawn Witham, Emil Alexov, Alka Chaubey, Roger E. Stevenson, Charles E. Schwartz, Philip G. Board, Angela F. Dulhunty

Izdano 2012

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Rezultati - Roger E. Stevenson

The MCT8 thyroid hormone transporter and Allan–Herndon–Dudley syndrome od Charles E. Schwartz, Roger E. Stevenson

Considering the Embryopathogenesis of VACTERL Association od Roger E. Stevenson, Alasdair G. W. Hunter

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery od Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

Menkes disease: a biochemical abnormality in cultured human fibroblasts. od T J Goka, Roger E. Stevenson, Patrick M. Hefferan, R. Rodney Howell

X‐linked intellectual disability update 2017 od Giovanni Neri, Charles E. Schwartz, Herbert A. Lubs, Roger E. Stevenson

Elements of morphology: Standard terminology for the nose and philtrum od Raoul C. M. Hennekam, Valérie Cormier‐Daire, Judith G. Hall, K Méhes, Michael A. Patton, Roger E. Stevenson

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes od Tejasvi Niranjan, Cindy Skinner, Melanie May, Tychele N. Turner, Rebecca Rose, Roger E. Stevenson, Charles E. Schwartz, Tao Wang

Mutations in the planar cell polarity genes<i>CELSR1</i>and<i>SCRIB</i>are associated with the severe neural tube defect craniorachischisis od Alexis Robinson, Sarah Escuin, Kit Doudney, Michel Vekemans, Roger E. Stevenson, Nicholas D. E. Greene, Andrew J. Copp, Philip Stanier

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands od Sara Cathey, J. G. Leroy, Tim Wood, Karissa Eaves, Richard J. Simensen, M. Kudo, Roger E. Stevenson, Michael J. Friez

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. od Lisbeth Tranebjærg, Charles E. Schwartz, H Eriksen, Sten Andréasson, Vesna Ponjavic, Andrew Dahl, Roger E. Stevenson, Melanie May, Fernando Arena, David Barker

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia od Fatima Abidi, Lynda Holloway, C. A. Moore, David D. Weaver, Richard J. Simensen, Roger E. Stevenson, R. Curtis Rogers, Charles E. Schwartz

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder od Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly L. Jones, Cindy Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto

Decreased tryptophan metabolism in patients with autism spectrum disorders od Luigi Boccuto, Chin‐Fu Chen, Ayla R Pittman, Cindy Skinner, Heather McCartney, Kelly A. Jones, Barry R. Bochner, Roger E. Stevenson, Charles E. Schwartz

Shashi XLMR syndrome: Report of a second family od Nelson H. C. Castro, Rita de Cássia Stocco, Retecher Nelson, Willy Beçak, Bernhard Häne, C.J. Lindsey, Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

Stocco dos Santos X‐linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3 od Rita de Cássia Stocco, Nelson H. C. Castro, Anthony Holmes, Willy Beçak, Darci Tackels‐Horne, C.J. Lindsey, Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome od A Lauren Cason, Yoshihiko Ikeguchi, Cindy Skinner, Tim Wood, Kenton R. Holden, Herbert A. Lubs, Francisco Martı́nez, Richard J. Simensen, Roger E. Stevenson, Anthony E. Pegg, Charles E. Schwartz

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition od James Garbern, Manuela Neumann, John Q. Trojanowski, Virginia M.‐Y. Lee, Gerald L. Feldman, Joy Norris, Michael J. Friez, Charles E. Schwartz, Roger E. Stevenson, Anders A. F. Sima

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