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المؤلفون: Jessica Becker, Julia Bay, Deepa Ajit, Sheryl S. Moy, Katja Kloth, Michael T. Zimmermann, Pilar Cacheiro, Ingrid M.B.H. van de Laar, Richard H. van Jaarsveld, Queenie K-G Tan, Adriana S. Beltran, Allyn McConkie-Rosell, Keith A. Breau, Laura Schultz-Rogers, Deike Weiss, Damaris N Lorenzo, Marie T. McDonald, Robert Jech, Paul R. Mark, Erin Torti, Richard E. Person, Benjamin Cogné, Renske Oegema, Eva H. Brilstra, Robert Stratton, Koen L.I. van Gassen, Reginald James Edwards, Rebecca C. Spillmann, Michael C. Stankewich, Amy Kritzer, Liset Falcon Rodriguez, Parul Jayakar, Joseph T. Shieh, Margot A. Cousin, Elizabeth A. Normand, Jennifer L. Kemppainen, Jennifer MacKenzie, Hartmut Engels, Marjon van Slegtenhorst, Evangeline Kurtz-Nelson, Tianyun Wang, Yue Si, Damian Smedley, Bertrand Isidor, Blake A Creighton, Vimla Aggarwal, Michael Zech, Alvaro A. Beltran, Stefan Aretz, Brenda Temple, Simone Afriyie, Sarah E McKeown, Louise Bier, Tatjana Bierhals, Grace Yoon, Juliane Winkelmann, Swarnendu Tripathi, Brendan C. Lanpher, Amy Blevins, Pavel N. Pichurin, Eric W. Klee, Kathryn M. Harper, Cecilia Fairley, Lauren Gunderson, Ingo Helbig, Sruthi Dontu, Kirsten Cremer, Raphael Bernier, Helen V. Firth, Gretchen Parsons, Lorena J. Munoz, Evan E. Eichler, Alison S May, Grazia M.S. Mancini
المساهمون: Clinical Genetics
المصدر: Nature Genetics, 53(7), 1006-1021. Nature Publishing Group
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)مصطلحات موضوعية: Heterozygote, Cytoskeleton organization, macromolecular substances, Biology, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Genetic Association Studies, 030304 developmental biology, Genes, Dominant, 0303 health sciences, Genetic Variation, Spectrin, Heterozygote advantage, medicine.disease, Phenotype, Hypotonia, Neurodevelopmental Disorders, Autism, medicine.symptom, Haploinsufficiency, Neuroscience, Neural development, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Kristin D. Kernohan, Sara Ellingwood, Jaime Barea, Christoffer Nellåker, Simon Sadedin, Katrin Õunap, Taila Hartley, Margarete Koch-Hogrebe, Marjan M. Nezarati, Augusta M. A. Lachmeijer, Dagmar Wieczorek, Elizabeth J. Bhoj, Paul J. Lockhart, Kym M. Boycott, Aren E Marshall, Tiong Yang Tan, Sander Pajusalu, Arran McBride, John Christodoulou, Michelle E. Ernst, Alison S May, Rami Abou Jamra, Susan M. White, Dong Li, K.L.I. van Gassen, Wendy E. Smith
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Adolescent, DNA Repair, DNA damage, DNA repair, medicine.disease_cause, Chromatin remodeling, 03 medical and health sciences, DDB1, Report, Histone methylation, Genetics, medicine, Humans, Child, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, Mutation, biology, 030305 genetics & heredity, Syndrome, Hypotonia, Ubiquitin ligase, DNA-Binding Proteins, Phenotype, Neurodevelopmental Disorders, Child, Preschool, biology.protein, Female, medicine.symptom
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المؤلفون: Louise Bier, Grace Yoon, Paul R. Mark, Brendan C. Lanpher, Grazia M.S. Mancini, Jessica Becker, Juliane Winkelmann, Sheryl S. Moy, Rebecca C. Spillmann, Alison S May, Eric W. Klee, Michael T. Zimmermann, Amy Kritzer, Tatjana Bierhals, Renske Oegema, Michael Zech, Pilar Cacheiro, Queenie K.-G. Tan, Deepa Ajit, Richard H. van Jaarsveld, Swarnendu Tripathi, Hartmut Engels, Parul Jayakar, Kathryn M. Harper, Evan E. Eichler, Evangeline Kurtz-Nelson, Tianyun Wang, Blake A Creighton, Jennifer L. Kemppainen, Jennifer MacKenzie, Cecilia Fairley, Keith A. Breau, Robert Stratton, Deike Weiss, Stefan Aretz, Benjamin Cogné, Richard E. Person, Vimla Aggarwal, Brenda Temple, Marie T. McDonald, Yue Si, Robert Jech, Elizabeth A. Normand, Sarah E McKeown, Koen L.I. van Gassen, Lauren Gunderson, Ingrid M.B.H. van de Laar, Ingo Helbig, Joseph T. Shieh, Margot A. Cousin, Marjon van Slegtenhorst, Damian Smedley, Sruthi Dontu, Kirsten Cremer, Laura Schultz-Rogers, Damaris N Lorenzo, Michael C. Stankewich, Katja Kloth, Erin Torti, Allyn McConkie-Rosell, Eva H. Brilstra, Amy Blevins, Pavel N. Pichurin, Bertrand Isidor, Raphael Bernier, Helen V. Firth, Gretchen Parsons
مصطلحات موضوعية: Cytoskeleton organization, Central nervous system, Biology, medicine.disease, Phenotype, Hypotonia, medicine.anatomical_structure, Intellectual disability, medicine, Global developmental delay, medicine.symptom, Haploinsufficiency, Neuroscience, Neural development
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المؤلفون: Alison S. May, Juliann M. Paolicchi
المصدر: Common Neurosurgical Conditions in the Pediatric Practice ISBN: 9781493938056
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المؤلفون: Alison S. May, Sotirios Keros
المصدر: Common Neurosurgical Conditions in the Pediatric Practice ISBN: 9781493938056
مصطلحات موضوعية: medicine.medical_specialty, Modalities, Age groups, medicine.diagnostic_test, business.industry, education, Physical therapy, food and beverages, Medicine, Neurological examination, Extremely Helpful, business, Relevant information
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المؤلفون: Philippe Douyon, Nitin K. Sethi, Alison S. May
المصدر: Practical Neurology. 13:380-381
مصطلحات موضوعية: medicine.medical_specialty, Severe headache, Pediatrics, medicine.diagnostic_test, Critically ill, business.industry, Critical Illness, Brain, Electroencephalography, macromolecular substances, General Medicine, Disease, Middle Aged, Subarachnoid Hemorrhage, Eeg patterns, Acute onset, Neuroimaging, medicine, Humans, Female, Subarachnoid haemorrhage, Neurology (clinical), Intensive care medicine, business