Որոնման արդյունքները - John McCarthy
- Ցուցադրվում են 1 - 10 արդյունքները 10
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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-... H. Richard Fevold, Matthew C. Lorence, John McCarthy, John M. Trant, Masaaki Kagimoto, Michael R. Waterman, J. Ian Mason
Հրապարակվել է 1989Artigo -
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A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy 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
Հրապարակվել է 2002Carta -
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Linkage of Familial Hibernian Fever to Chromosome 12p13 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
Հրապարակվել է 1998Artigo -
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Schaaf‐Yang syndrome overview: Report of 78 individuals 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
Հրապարակվել է 2018Artigo -
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Phenotypic expansion of <scp>Bosch–Boonstra–Schaaf</scp> optic atrophy syndrome and further evidence for genotype–phenotype correlations 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
Հրապարակվել է 2020Artigo -
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Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes 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
Հրապարակվել է 1999Artigo -
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies 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
Հրապարակվել է 2019Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Medicine
Biology
Gene
Genetics
Internal medicine
Autism
Autism spectrum disorder
Hypotonia
Intellectual disability
Neurodevelopmental disorder
Pathology
Phenotype
Psychiatry
Psychology
Biochemistry
Developmental psychology
Disease
Endocrinology
Frameshift mutation
Hormone
Immunology
Missense mutation
Molecular biology
Mutation
Neuroscience
Steroid
Adrenocorticotropic hormone
Alpha (finance)
Amino acid
Anemia