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1Academic Journal
المؤلفون: Chloe Molnar, Iva Strnadová, Manjekah Dunn, Julie Loblinzk, Skie Sarfaraz, Yasmin Cathcart-King, Michelle Tso, Joanne Danker, Sarah Hayes, Sierra Angelina Willow, Jennifer Hansen, Tiffany Qing Lim, Jackie Boyle, Bronwyn Terrill, Jackie Leach Scully, Elizabeth Emma Palmer
المصدر: Frontiers in Psychiatry, Vol 15 (2024)
مصطلحات موضوعية: intellectual disability, co-production, inclusion, healthcare for consistency, education, Psychiatry, RC435-571
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field
المصدر: International Journal of Neonatal Screening, Vol 4, Iss 1, p 9 (2018)
مصطلحات موضوعية: newborn screening, fragile X syndrome, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المصدر: Twin Research and Human Genetics. :1-7
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Genetics (clinical)
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المؤلفون: Chloe Molnar, Iva Strnadová, Manjekah Dunn, Julie Loblinzk, Skie Sarfaraz, Yasmin Cathcart-King, Michelle Tso, Joanne Danker, Sarah Hayes, Sierra Angelina Willow, Jennifer Hansen, Tiffany Qing Lim, Jackie Boyle, Bronwyn Terrill, Jackie Leach Scully, Elizabeth Emma Palmer
مصطلحات موضوعية: Psychiatry (incl. Psychotherapy), intellectual disability, co-production, inclusion, healthcare for consistency, education
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المؤلفون: Iva Strnadová, Julie Loblinzk, Jackie Leach Scully, Joanne Danker, Michelle Tso, Karen-Maia Jackaman, Manjekah Dunn, Sierra Angelina Willow, Skie Sarfaraz, Vanessa Fitzgerald, Jackie Boyle, Elizabeth Emma Palmer
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer
المساهمون: UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service de pédiatrie, Growth and Development, Pediatrics, Centre for Medical Genetics, Brussels Heritage Lab, Medical Genetics
المصدر: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATUREمصطلحات موضوعية: Male, DISRUPTION, Chloride Channels/genetics, EXCHANGER, Mutation, Missense, LYSOSOMAL STORAGE DISEASE, VARIANTS, Neurodevelopmental Disorders/genetics, PHENOTYPE, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Genes, X-Linked, CLC CHLORIDE, Medicine and Health Sciences, Humans, Molecular Biology, MUTATION, Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHANNELS, LINKED MENTAL-RETARDATION, ASSOCIATION, GENE, Psychiatry and Mental health, Chemistry, Female, Human medicine
وصف الملف: application/pdf
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المؤلفون: Jackie Boyle, Julia Mansour, Samantha Ayres, Ainsley J Newson, Danya F. Vears
المصدر: Twin Research and Human Genetics. 23:184-189
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Position statement, Gerontology, predictive testing, Adolescent, Genetic counseling, Psychological intervention, Genetic Counseling, young people, genetic testing, 03 medical and health sciences, 0302 clinical medicine, children, adults, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Decision-making, Child, Predictive testing, Genetics (clinical), Genetic testing, Genetics & Heredity, Science & Technology, 030219 obstetrics & reproductive medicine, Australasia, medicine.diagnostic_test, Australia, Obstetrics & Gynecology, Obstetrics and Gynecology, Human genetics, 030104 developmental biology, Asymptomatic Diseases, Pediatrics, Perinatology and Child Health, Female, Psychology, Life Sciences & Biomedicine, Psychosocial, New Zealand
وصف الملف: Print
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المؤلفون: Jane Fleming, Huafrin Kotwal, Letitia Silberbauer, Jackie Boyle, Lucinda Murray, Kristine Barlow-Stewart, Elizabeth E. Palmer, Melanie Leffler
المصدر: Journal of Genetic Counseling. 29:668-677
مصطلحات موضوعية: Adult, medicine.medical_specialty, Health Personnel, Genetic counseling, education, Health Services Accessibility, Resource (project management), Intellectual Disability, Surveys and Questionnaires, Intellectual disability, Health care, medicine, Humans, Genetic Testing, health care economics and organizations, Genetics (clinical), Service (business), Medical education, business.industry, Middle Aged, medicine.disease, Readability, Patient Satisfaction, Medical genetics, Female, Customer satisfaction, New South Wales, Psychology, business
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المصدر: Twin research and human genetics : the official journal of the International Society for Twin Studies. 24(6)
مصطلحات موضوعية: Australasia, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Humans, Human Genetics, Genetic Testing, Genomics, Delivery of Health Care, Genetics (clinical)
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المؤلفون: Tony Roscioli, Louise Christie, Jackie Boyle, Rupendra N. Shrestha, Melanie Leffler, Nadine A. Kasparian, Michael Field, Radhika Rajkumar, Owen Tan, Deborah Schofield, Robert Tanton, Lucinda Murray, Morgan Rice, Sarah West, Jinjing Li
المصدر: International Journal of Microsimulation. 13:52-66
مصطلحات موضوعية: Microsimulation model, Intellectual disability, medicine, Microsimulation, Demographic economics, Sociology, medicine.disease
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المؤلفون: Sam Ayres, Jackie Boyle, Amy Nisselle, Michael T. Gabbett, Ainsley J Newson
المصدر: Twin Research and Human Genetics
مصطلحات موضوعية: 0301 basic medicine, Legislation, Disclosure, 030105 genetics & heredity, Insurance Selection Bias, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Intensive care, Life insurance, medicine, genomics, Humans, 030212 general & internal medicine, Income protection insurance, Genetics (clinical), Genetic testing, Government, Actuarial science, medicine.diagnostic_test, Australasia, Australia, Obstetrics and Gynecology, regulation, Human Genetics, Articles, Product (business), Insurance, Life, Pediatrics, Perinatology and Child Health, Business, Personal genomics, insurance, discrimination
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المؤلفون: Pawel Stankiewicz, Claude Moraine, Astrid Grimme, Martine Raynaud, Jillian Nicholl, D. Hamlin, Mauricio R. Delgado, Linda Manwaring, H Van Bokhoven, Zhiyv Niu, Stefanie Weinert, J. Wynn, Jozef Gecz, Thomas J. Jentsch, Vanessa Suckow, Vera M. Kalscheuer, Hossein Najmabadi, Jackie Boyle, A. Sommer, Maureen Holvoet, J. M. Goehringer, Eric Haan, M. P. Pietryga, Luis Rohena, John Tolmie, Luciana Musante, Utz Fischer, Floor A. M. Duijkers, Wendy K. Chung, Friederike Hennig, Jan Maarten Cobben, Elizabeth E. Palmer, Tjitske Kleefstra, H Van Esch, B. M. Faux, Michael Field, Kimia Kahrizi, Deepa Sirsi, Melanie Leffler, T. Stuhlmann, Dorothy K. Grange, Jill A. Rosenfeld, Hans-Hilger Ropers, S. P. Lodh, Marie Shaw, Sailaja Golla, E. Bernardo, Shelagh Joss, Thomas D. Challman
المساهمون: General Paediatrics, ANS - Cellular & Molecular Mechanisms, Paediatric Genetics, Other Research, Human Genetics
المصدر: Molecular Psychiatry, 23, 222-230
Molecular Psychiatry
Molecular psychiatry, 23(2), 222-230. Nature Publishing Group
Molecular psychiatry, Advance online publication
Molecular Psychiatry, 23, 2, pp. 222-230مصطلحات موضوعية: Male, 0301 basic medicine, Movement disorders, Xenopus laevis, Epilepsy, 0302 clinical medicine, Genes, X-Linked, Intellectual disability, Missense mutation, Child, Genetics, Genetic Diseases, X-Linked, Syndrome, Middle Aged, White Matter, Pedigree, 3. Good health, Psychiatry and Mental health, Phenotype, Schizophrenia, Child, Preschool, Female, Original Article, medicine.symptom, Function and Dysfunction of the Nervous System, Adult, medicine.medical_specialty, Adolescent, Frameshift mutation, 03 medical and health sciences, Cellular and Molecular Neuroscience, All institutes and research themes of the Radboud University Medical Center, Chloride Channels, Intellectual Disability, medicine, Animals, Humans, Family, Psychiatry, Molecular Biology, Germ-Line Mutation, Aged, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, medicine.disease, 030104 developmental biology, Mood disorders, Cardiovascular and Metabolic Diseases, Mutation, Behavioral medicine, Oocytes, business, Epileptic Syndromes, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
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المؤلفون: Amy Crunk, Delphine Héron, Gretchen Parsons, Caroline Nava, Paul R. Mark, Richard E. Person, John M. Graham, Hannah Warren, Parul Jayakar, Lise Larcher, Marwan Shinawi, Sandra Whalen, Audrey Putoux, Kathryn G. Miller, Jane Juusola, Boris Keren, Rebecca Willaert, Alexandra Afenjar, Isabelle Sabatier, Susan A. Berry, Benjamin Cogné, Susan M. Hiatt, Jackie Boyle, Natasha Shur, Erin Torti, Rachel Rabin, Gaetan Lesca, Thomas Courtin, Mathilde Nizon, Luis F. Escobar, G. Shashidhar Pai, Sabra Ledare Finley, Marisa V. Andrews, Margaret G. Au, Kevin M. Bowling, Zehua Zhu, Sara S. Cathey, Steven A. Skinner, Perrine Charles, Ganka Douglas, Kristin G. Monaghan, Ilse J. Anderson, Stéphanie Valence, Katelyn Payne, Kathleen A. Hibbs, John Pappas, Stacy Hewson, Benjamin D. Solomon, Celia Atkinson, Dorothy K. Grange, Elizabeth E. Palmer, Julien Buratti, Louisa Kalsner
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, Developmental delay, Autism, Intellectual disability, 030105 genetics & heredity, Article, Craniosynostosis, 03 medical and health sciences, Young Adult, Exome Sequencing, Medicine, Humans, Postnatal overgrowth, Exome, Craniofacial, Child, Genetics (clinical), Exome sequencing, Aged, TCF20, business.industry, Middle Aged, medicine.disease, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Cohort, Mutation, Female, business, Transcription Factors
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المؤلفون: Michael Field, Alison Gardner, Hilde Van Esch, Vera M. Kalscheuer, Jackie Boyle, Matthew F. Hunter, Evelyn Douglas, Marie Shaw, Jozef Gecz, Melanie Leffler, Lloyd Weir, C Jensen, Elizabeth E. Palmer, Martine Raynaud, Bregje W.M. van Bon, C Tan, Carolyn Rogers, Griet Van Buggenhout, Lachlan A. Jolly, Stefan A. Haas, Eric Haan, Kathryn Friend, Katrin Hoffmann, Mark A. Corbett, Raman Kumar, M Bienek, Joshua A. Woenig, Hao Hu, Huiying Zhao, Robin Reed, Anna Hackett
المصدر: The American Journal of Human Genetics
American Journal of Human Genetics, 97, 2, pp. 302-10
American Journal of Human Genetics, 97, 302-10مصطلحات موضوعية: Models, Molecular, X-linked intellectual disability, Protein subunit, Molecular Sequence Data, Active Transport, Cell Nucleus, Mutation, Missense, Biology, 03 medical and health sciences, 0302 clinical medicine, Report, Genetics, medicine, Protein biosynthesis, Humans, Missense mutation, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Genetics (clinical), X chromosome, Exome sequencing, 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, Messenger RNA, Base Sequence, RNA-Binding Proteins, Sequence Analysis, DNA, Syndrome, medicine.disease, Pedigree, Cell nucleus, medicine.anatomical_structure, Mental Retardation, X-Linked, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
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المؤلفون: Albert Mansour, Tiziana Nardo, Michael R. Stratton, Gillian Turner, Lucianne Vandeleur, Tracy Dudding-Byth, Jackie Boyle, Jozef Gecz, Mark A. Corbett, Kathryn Friend, Elena Botta, Patrick S. Tarpey, Michael Field, Giuseppina Caligiuri, Lynne Hobson, Jo Crawford, Louise Christie, Graeme D. Jackson, Patricia Crock, Anna Hackett
المصدر: Journal of Medical Genetics. 52:269-274
مصطلحات موضوعية: Male, Genetics, Microcephaly, Cutis marmorata, Adolescent, Ichthyosis, DNA Mutational Analysis, Molecular Sequence Data, Nonsense mutation, Trichothiodystrophy, Biology, medicine.disease, Pedigree, DNA-Binding Proteins, Codon, Nonsense, medicine, Humans, Trichothiodystrophy Syndromes, Amino Acid Sequence, Allele, medicine.symptom, Genetics (clinical), X chromosome, Exome sequencing
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16Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
المؤلفون: P. Andrew Futreal, Jozef Gecz, Anna Hackett, Andrea Licata, Charles E. Schwartz, Roger E. Stevenson, Annabel Whibley, Tod Fullston, Gillian Turner, Maja K. Choma, Georgina Parkin, Raffaella Smith, Vincent Plagnol, Catherine A. Boucher, Patrick S. Tarpey, Michael Field, Fatima Abidi, Marie Shaw, Cindy Skinner, Jackie Boyle, F. Lucy Raymond, Lorraine Shepherd, Lionel Willatt, Michael R. Stratton
المصدر: The American Journal of Human Genetics. 87(2):173-188
مصطلحات موضوعية: Male, Cosegregation, DNA Copy Number Variations, Retroelements, Biology, Article, Structural variation, Cohort Studies, INDEL Mutation, Genes, X-Linked, Chromosome Segregation, Intellectual Disability, Genetics, Humans, Disease, Genetics(clinical), Copy-number variation, Genetics (clinical), X chromosome, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Gene Rearrangement, Chromosomes, Human, X, Reproducibility of Results, Chromosome Breakage, Gene rearrangement, Pedigree, Human genome, Female, Chromosome breakage, Comparative genomic hybridization
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المؤلفون: James J. Cox, F. Lucy Raymond, Michael R. Stratton, John R. Grigg, Meredith Wilson, Jozef Gecz, Andrea Licata, Jackie Boyle, Marie Shaw, Michael Partington, Gillian Turner, John Tolmie, Carolyn J Rogers, Patrick S. Tarpey, John R.W. Yates, Annabel Whibley, Andrew Futreal, Mark A. Corbett, Roger E. Stevenson, Anna Hackett, Fatima Abidi, Charles E. Schwartz
المصدر: European Journal of Human Genetics. 18:544-552
مصطلحات موضوعية: Male, Proband, Microcephaly, DNA Mutational Analysis, Molecular Sequence Data, Nystagmus, Biology, Article, Cohort Studies, X Chromosome Inactivation, Genetics, medicine, Humans, Missense mutation, Family, Amino Acid Sequence, CASK, Cerebellar hypoplasia, Genetics (clinical), X chromosome, Chromosomes, Human, X, Base Sequence, Facies, Pelizaeus–Merzbacher disease, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Pedigree, Phenotype, Case-Control Studies, Mutation, Mental Retardation, X-Linked, Female, medicine.symptom, Guanylate Kinases, Nystagmus, Congenital
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المؤلفون: Sarah Edkins, Sinitdhorn Rujirabanjerd, Charles E. Schwartz, Cheryl Shoubridge, Jamel Chelly, Kelly Turrell, Sofie West, Matt Blow, Richard Wooster, Ying Luo, Douglas F. Easton, F. Lucy Raymond, Yali Xue, Michael R. Stratton, Francisco Martínez, Annabel Whibley, Sarah O’Meara, Lucianne Vandeleur, Jozef Gecz, Calli Latimer, Arjan P.M. de Brouwer, Michael Field, Sara Widaa, Eric Haan, Kristian Gray, John Tolmie, Rebecca Shepherd, Tatiana Mironenko, Paul Wray, Chris Tyler-Smith, Rachel Turner, David T. Jones, Anna Hackett, Ed Dicks, Martine Raynaud, Erin Pleasance, Christopher Greenman, Fatima Abidi, Jenny Moon, Rene Goliath, P. Andrew Futreal, Gemma L. Carvill, Roger E. Stevenson, Gillian Turner, Claire Hardy, Deborah J. Thompson, Phil Stephens, Patrick S. Tarpey, Rebecca Dunmore, Andrew M. Jenkinson, Martin Bobrow, Raffaella Smith, Syd Barthorpe, Gemma Buck, Tod Fullston, James J. Cox, Jennifer Varian, Mark A. Corbett, Uma Mallya, M Isabel Tejada, Jackie Boyle, David S. Richardson, Anand Srivastava, Mark Maddison, Jenny Andrews, Hilde Van Esch, Hans-Hilger Ropers, Adam Butler, Jon W. Teague, Shehla Mohammed, Alison Gardner, Josef Parnau, Hans van Bokhoven, Andrew Menzies, Mingming Jia, Michael Partington, Marie Shaw, Cindy Skinner, Jennifer Cole
المصدر: NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Nature Genetics, 41, 535-43
Nature Genetics, 41, 5, pp. 535-43مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], X-linked intellectual disability, Sequence analysis, Biology, DNA sequencing, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, CASK, Gene, Loss function, X chromosome, 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, Chromosome Mapping, Genetic Variation, Exons, Sequence Analysis, DNA, medicine.disease, Pedigree, Mental Retardation, X-Linked, Female, Human genome, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Michael Field, Andreas Tzschach, Eric H. Kossoff, Kazuhiro Haginoya, Lubov Blumkin, Orna Epstein, David Geneviève, Sara Kivity, Marjolaine Willems, Ayelet Zerem, Cheryl Shoubridge, Elizabeth E. Palmer, Tjitske Kleefstra, Hirotomo Saitsu, Naomichi Matsumoto, David Chitayat, Amélie Piton, Jackie Boyle, Sarah Dugan, Dorit Lev, Tally Lerman-Sagie, Alice Masurel-Paulet, Ilan Linder, Eli Heyman, Esther Leshinsky-Silver, Frederic Tran-Mau-Them, Ryo Sato, Rolph Pfundt, William D. Gaillard
المساهمون: Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg
المصدر: Epilepsia, 57, 1858-1869
Epilepsia, 57, 11, pp. 1858-1869
Epilepsia
Epilepsia, Wiley, 2016, 57 (11), pp.1858-1869. ⟨10.1111/epi.13560⟩مصطلحات موضوعية: Adult, Male, Exome sequencing, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Intellectual disability, Cohort Studies, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Guanine Nucleotide Exchange Factors, Humans, Child, Strabismus, Psychiatry, Genetic Association Studies, X-linked, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epileptic encephalopathy, business.industry, Seizure types, Brain, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Hypotonia, 3. Good health, Epileptic spasms, Phenotype, 030104 developmental biology, Neurology, Child, Preschool, Mutation, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), medicine.symptom, business, Developmental regression, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
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المؤلفون: Raman Kumar, Jozef Gecz, Michael Field, Marie Shaw, Kathryn Friend, Marie Mangelsdorf, Lynne Hobson, Duyen H. Pham, Jackie Boyle, Anna Hackett, Mark A. Corbett, Gillian Turner, Thuong Ha
المساهمون: Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef
مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Adult, Male, RNA Folding, Five prime untranslated region, Short Report, Biology, 03 medical and health sciences, Genetic linkage, Cell Line, Tumor, Gene duplication, Genetics, Humans, RNA, Messenger, Nuclear protein, Gene, Genetics (clinical), X chromosome, Aged, Aged, 80 and over, Chromosomes, Human, X, Nuclear Proteins, Middle Aged, Phenotype, Pedigree, Mutagenesis, Insertional, 030104 developmental biology, HEK293 Cells, intellectual disability, Mental Retardation, X-Linked, Female, mutation, 5' Untranslated Regions, Transcription Factors
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