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1دورية أكاديمية
المؤلفون: Tehila Stern, Emeline H. Crutcher, John M. McCarthy, May A. Ali, Gil Issachar, Amir B. Geva, Ziv Peremen, Christian P. Schaaf
المصدر: Frontiers in Neuroscience, Vol 15 (2021)
مصطلحات موضوعية: 15q13.3, microdeletion, CHRNA7, ERP, auditory oddball, Go/No-Go, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Philip J. Lupo, Megan E. Rech, Linford Williams, Suneeta Madan-Khetarpal, Veeral Shah, Erin Kovar, Gerard T. Berry, Dmitriy Niyazov, Christian P. Schaaf, Daniëlle G. M. Bosch, Charles Shaw-Smith, Jane C. Edmond, Chun-An Chen, John M. McCarthy
المصدر: American Journal of Medical Genetics Part A. 182:1426-1437
مصطلحات موضوعية: Male, Cortical visual impairment, Alacrima, Neurodevelopmental disorder, Atrophy, Optic Atrophies, Hereditary, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Genetic Association Studies, Genetics (clinical), Optic nerve hypoplasia, COUP Transcription Factor I, business.industry, medicine.disease, Hypotonia, DNA-Binding Proteins, Codon, Nonsense, Autism spectrum disorder, Mutation, Female, medicine.symptom, business, Neuroscience
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المؤلفون: Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Genetics in Medicine, 21(8), 1797. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkinsمصطلحات موضوعية: speech delay, Autism Spectrum Disorder, Autism, Haploinsufficiency, Bioinformatics, Whole Exome Sequencing, white matter paucity, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, 2.1 Biological and endogenous factors, Genetics(clinical), Child, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, 0303 health sciences, Genome, neurodevelopment, Nuclear Proteins, Phenotype, Hypotonia, ddc, 3. Good health, DNA-Binding Proteins, Mental Health, Autism spectrum disorder, Speech delay, Chromosome Deletion, medicine.symptom, Human, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Article, 03 medical and health sciences, Clinical Research, Usp7, Neurodevelopment, Speech Delay, White Matter Paucity, Corpus Callosum Thinning, Intellectual Disability, 030225 pediatrics, Behavioral and Social Science, Genetics, medicine, Humans, Language Development Disorders, Preschool, 030304 developmental biology, Problem Behavior, business.industry, corpus callosum thinning, Neurosciences, Proteins, Infant, Newborn, medicine.disease, Brain Disorders, Neurodevelopmental Disorders, USP7, Congenital Structural Anomalies, business
وصف الملف: application/pdf; text/plain; image/pdf
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المؤلفون: John M. McCarthy
المصدر: Moreana. 56:81-96
مصطلحات موضوعية: Literature, SOCRATES, Sadness, History, business.industry, media_common.quotation_subject, Philosophy, Religious studies, Consolation, business, Law, media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::66558d918819fd60d26e87ba4a084563
https://doi.org/10.3366/more.2019.0052 -
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المؤلفون: John M. McCarthy, Dave Brunner
المصدر: Tactical Decision-Making in Sport ISBN: 9780429296482
مصطلحات موضوعية: business.industry, Process (engineering), ComputerApplications_MISCELLANEOUS, Field (Bourdieu), ComputingMilieux_PERSONALCOMPUTING, American football, Football, Public relations, business, Psychology, Coaching
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e846581e2c49c604cbbe6e87970afc96
https://doi.org/10.4324/9780429296482-15 -
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المؤلفون: Fritz I. Ettl Rodríguez, Val Altieri, John M. McCarthy
المصدر: Journal of Physical Education, Recreation & Dance. 89:37-47
مصطلحات موضوعية: Data collection, Computer science, 05 social sciences, 050301 education, Physical Therapy, Sports Therapy and Rehabilitation, 030229 sport sciences, Education, 03 medical and health sciences, 0302 clinical medicine, Work (electrical), Individualized learning, Mathematics education, Graphic organizer, Portfolio, Orthopedics and Sports Medicine, Zoom, Positive Youth Development, 0503 education, Social responsibility
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المؤلفون: Jennifer L. Miller, Christian P. Schaaf, May Ali, Jiani Yin, HaiThuy N Nguyen, Chun-An Chen, John M. McCarthy, Bonnie M McCann-Crosby, Megan E. Rech
المصدر: Journal of Medical Genetics. 55:307-315
مصطلحات موضوعية: Blood Glucose, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, Developmental Disabilities, 030209 endocrinology & metabolism, Short stature, Growth hormone deficiency, Feeding and Eating Disorders, 03 medical and health sciences, 0302 clinical medicine, Bone Density, Internal medicine, Genetics, medicine, Humans, Testosterone, Insulin-Like Growth Factor I, Child, Genetics (clinical), business.industry, Genetic disorder, Proteins, Luteinizing Hormone, medicine.disease, Ghrelin, Hypotonia, Insulin-Like Growth Factor Binding Protein 3, 030104 developmental biology, Endocrinology, Scoliosis, Autism spectrum disorder, Child, Preschool, Muscle Hypotonia, Female, Follicle Stimulating Hormone, medicine.symptom, business, Prader-Willi Syndrome, Hypogonadotrophic hypogonadism
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المؤلفون: Laura Hayden, John M. McCarthy
مصطلحات موضوعية: Mindfulness, Psychotherapist, business.industry, Applied psychology, business, Psychology, Coaching
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ebf08e141fec8cebfe0e226ee49ef3bc
https://doi.org/10.1017/cbo9781139871310.021 -
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المؤلفون: John M. McCarthy, Amy Baltzell
المصدر: Critical Mindfulness ISBN: 9783319307817
مصطلحات موضوعية: Value (ethics), Mindfulness, biology, Athletes, 05 social sciences, Applied psychology, Psychological intervention, 050109 social psychology, 030229 sport sciences, biology.organism_classification, Sport psychology, 03 medical and health sciences, 0302 clinical medicine, Intervention (counseling), 0501 psychology and cognitive sciences, Elite athletes, Psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::769901850d68c7ba3bcae171c322efbb
https://doi.org/10.1007/978-3-319-30782-4_10 -
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المؤلفون: John M. McCarthy
المصدر: Reviews in American History. 39:470-476
مصطلحات موضوعية: History, Political science, Political economy, General Medicine
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