Resultats de la cerca - John McCarthy

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  1. 1
    Attitudes toward Individuals Who Use Augmentative and Alternative Communication: Research Review

    Attitudes toward Individuals Who Use Augmentative and Alternative Communication: Research Review per John McCarthy, Janice Light

    Publicat 2005
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  2. 2
    Evidence that the cycloheximide-sensitive site of adrenocorticotropic hormone action is in the mitochondrion. Changes in pregnenolone formation, cholesterol content, and the electron paramagnetic resonance spectra of cytochrome P-450.

    Evidence that the cycloheximide-sensitive site of adrenocorticotropic hormone action is in the mitochondrion. Changes in pregnenolone formation, cholesterol content, and the electr... per E R Simpson, John McCarthy, Jerry A. Peterson

    Publicat 1978
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  3. 3
    Evaluation of Plasma Erythropoietic-Stimulating Factors in Anemic Uremic Patients

    Evaluation of Plasma Erythropoietic-Stimulating Factors in Anemic Uremic Patients per N. I. Gallagher, John McCarthy, Kathleen T. Hart, Robert D. Lange

    Publicat 1959
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  4. 4
    Rat P450<sub>17α</sub>from Testis: Characterization of a Full-Length cDNA Encoding a Unique Steroid Hydroxylase Capable of Catalyzing Both Δ<sup>4</sup>- and Δ<sup>5</sup>-Steroid-17,20-Lyase Reactions

    Rat P450<sub>17α</sub>from Testis: Characterization of a Full-Length cDNA Encoding a Unique Steroid Hydroxylase Capable of Catalyzing Both Δ<sup>4</sup>- and Δ<sup>5</sup>-Steroid-... per H. Richard Fevold, Matthew C. Lorence, John McCarthy, John M. Trant, Masaaki Kagimoto, Michael R. Waterman, J. Ian Mason

    Publicat 1989
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  5. 5
    A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

    A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy per Alan D. Irvine, C. M. Coleman, Jonathan E. Moore, Ole Swensson, Steven Morgan, John McCarthy, Frances J.D. Smith, Graeme Black, W.H. Irwin McLean

    Publicat 2002
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  6. 6
    Linkage of Familial Hibernian Fever to Chromosome 12p13

    Linkage of Familial Hibernian Fever to Chromosome 12p13 per Michael McDermott, B Ogunkolade, Elizabeth McDermott, Lisa C. Jones, Ying Wan, Kathleen A. Quane, John McCarthy, Mark Phelan, Michael G. Molloy, Richard J. Powell, Christopher I. Amos, G. A. Hitman

    Publicat 1998
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  7. 7
    Schaaf‐Yang syndrome overview: Report of 78 individuals

    Schaaf‐Yang syndrome overview: Report of 78 individuals per John McCarthy, Philip J. Lupo, Erin Kovar, Megan Rech, Bret L. Bostwick, Daryl A. Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A. Schrier Vergano, Edward J. Lose, Robert Smiegel, Yves Lacassie, Christian P. Schaaf

    Publicat 2018
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  8. 8
    Phenotypic expansion of <scp>Bosch–Boonstra–Schaaf</scp> optic atrophy syndrome and further evidence for genotype–phenotype correlations

    Phenotypic expansion of <scp>Bosch–Boonstra–Schaaf</scp> optic atrophy syndrome and further evidence for genotype–phenotype correlations per Megan Rech, John McCarthy, Chun‐An Chen, Jane C. Edmond, Veeral S. Shah, Daniëlle G.M. Bosch, Gerard T. Berry, Linford Williams, Suneeta Madan‐Khetarpal, Dmitriy Niyazov, Charles Shaw‐Smith, Erin Kovar, Philip J. Lupo, Christian P. Schaaf

    Publicat 2020
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  9. 9
    Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

    Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes per Michael McDermott, Ivona Aksentijevich, Jérôme Galon, Elizabeth McDermott, B Ogunkolade, Michael Centola, Elizabeth Mansfield, Massimo Gadina, Leena Karenko, Tom Pettersson, John McCarthy, David M. Frucht, Martin Aringer, Yelizaveta Torosyan, Anna‐Maija Teppo, Meredith Wilson, H.Mehmet Karaarslan, Ying Wan, Ian Todd, Geryl Wood, Ryan Schlimgen, Thisum R. Kumarajeewa, Sheldon M. Cooper, John P. Vella, Christopher I. Amos, John C. Mulley, Kathleen A. Quane, Michael G. Molloy, Annamari Ranki, Richard J. Powell, G. A. Hitman, John J. O’Shea, Daniel L. Kastner

    Publicat 1999
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  10. 10
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies per Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    Publicat 2019
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