المؤلفون: Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P. Modi, Catherine M. Biggs, Cyrus Boelman, Lorne A. Clarke, Anna Lehman, Stuart E. Turvey

المصدر: HGG Advances, Vol 5, Iss 1, Pp 100259- (2024)

مصطلحات موضوعية: MARK4, neurodevelopmental disorder, post-translational modifications, microtubule stabilization, mTOR complex 1, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S266624772300091X; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/bf3e9fa10478485a97952f4e524c5f92

المؤلفون: Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

المصدر: HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)

مصطلحات موضوعية: genome sequencing, exome sequencing, genetic counseling, multidisciplinary approach, diagnostic rate, reanalysis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000240; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/d29b9915f4b74cfe801ed2dbe124d5cc

المؤلفون: Mehul Sharma, Maggie P. Fu, Henry Y. Lu, Ashish A. Sharma, Bhavi P. Modi, Christina Michalski, Susan Lin, Joshua Dalmann, Areesha Salman, Kate L. Del Bel, Meriam Waqas, Jefferson Terry, Audi Setiadi, Pascal M. Lavoie, Wyeth W. Wasserman, Jill Mwenifumbo, Michael S. Kobor, Anna F. Lee, Florian Kuchenbauer, Anna Lehman, Sylvia Cheng, Anthony Cooper, Millan S. Patel, Stuart E. Turvey

المصدر: Blood. 140(17)

مصطلحات موضوعية: Osteochondroma, Contracture, Lymphoma, B-Cell, NFATC Transcription Factors, Calcineurin, Immunology, Leukemia, B-Cell, Humans, Cell Biology, Hematology, Neoplasm Recurrence, Local, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c4b7b3387f662b88c2209cb3785bdf
https://pubmed.ncbi.nlm.nih.gov/35789258

المؤلفون: Mehul Sharma, Maggie P. Fu, Henry Y. Lu, Ashish A. Sharma, Bhavi P. Modi, Christina Michalski, Susan Lin, Joshua Dalmann, Areesha Salman, Kate L. Del Bel, Meriam Waqas, Jefferson Terry, Audi Setiadi, Pascal M. Lavoie, Wyeth W. Wasserman, Jill Mwenifumbo, Michael S. Kobor, Anna F. Lee, Anna Lehman, Sylvia Cheng, Anthony Cooper, Millan S. Patel, Stuart E. Turvey

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e85b1a0cda3ffbd42123cea08f585598
https://doi.org/10.1101/2022.01.30.22269378

المؤلفون: Patricia Birch, Larry D. Lynd, Dallas Genereaux, Tanya N. Nelson, Christèle du Souich, Clara Van Karnebeek, Clara D.M. van Karnebeek, Aisha Ghani, Ellen Kim, Anna Lehman, Jan M. Friedman, Alison M. Elliott, Nick Dragojlovic, Jill Mwenifumbo, Shelin Adam

المصدر: Genetics in Medicine. 22:292-300

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Accrual, business.industry, Medical record, 030105 genetics & heredity, Confidence interval, 03 medical and health sciences, Indirect costs, 030104 developmental biology, Cohort, medicine, Care pathway, business, Exome, Productivity, health care economics and organizations, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3762ea6f38b61fe7f4b68cfd1ead05c9
https://doi.org/10.1038/s41436-019-0635-6

المؤلفون: Maja Tarailo-Graovac, Sylvia Stockler, Vladimir Avramovic, Anna Lehman, Britt I. Drögemöller, Jan M. Friedman, Casper Shyr, Wyeth W. Wasserman, Gabriella Horvath, Colin J. D. Ross, Aisha Ghani, Allison Matthews, Clara D.M. van Karnebeek, Ingrid Blydt-Hansen, Jessica J. Y. Lee, Magda Price, Jill Mwenifumbo

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Neurogenetics, 22(4), 251-262. Springer Verlag

مصطلحات موضوعية: medicine.medical_specialty, Candidate gene, Levodopa, Neurology, Movement disorders, business.industry, Biogenic amines, Neurotransmitters, Bioinformatics, 3. Good health, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Monoamine neurotransmitter, chemistry, Next generation sequencing, Genetics, medicine, medicine.symptom, Neurotransmitter, business, Exome, Genetics (clinical), Dyskinetic cerebral palsy, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488fcce63c1fad51c31e5acc639ff606
https://pure.amc.nl/en/publications/secondary-biogenic-amine-deficiencies-genetic-etiology-therapeutic-interventions-and-clinical-effects(54abd531-254a-417b-98f5-55c1dd83d7dd).html

المؤلفون: Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

المساهمون: Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, Paediatrics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Human Genetics and Genomics Advances, 3(3):100108. Cell Press

مصطلحات موضوعية: genome sequencing, genetic counseling, diagnostic rate, multidisciplinary approach, reanalysis, Molecular Medicine, exome sequencing, reinterpretation, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5476546684208e2c599da5b7842650e6
https://pubmed.ncbi.nlm.nih.gov/35599849

المؤلفون: Wyeth W. Wasserman, Jill Mwenifumbo, Helly Goez, Margaret L. McKinnon, John Andersen, Alison M. Elliott, Magda Price, Britt I. Drögemöller, Colin J. D. Ross, Ramona Salvarinova, Michelle Demos, Aisha Ghani, Graham Sinclair, Sylvia Stockler, Gabriella Horvath, Allison Matthews, Basmah Al-Jabri, Mary B. Connolly, Katherine Selby, Jessica J. Y. Lee, Clara D.M. van Karnebeek, Ingrid Blydt-Hansen, Hilary Vallance, Casper Shyr, Maja Tarailo-Graovac

المساهمون: Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, ANS - Compulsivity, Impulsivity & Attention, AGEM - Inborn errors of metabolism

المصدر: Genetics in medicine, 21(7), 1621-1628. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Genetic counseling, Neurological examination, Disease, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Intellectual disability, molecular diagnosis, Medicine, Humans, Family history, Precision Medicine, intellectual disability (ID), Child, next-generation sequencing (NGS), Genetics (clinical), Genetic Association Studies, medicine.diagnostic_test, treatment, business.industry, cerebral palsy (CP), Cerebral Palsy, High-Throughput Nucleotide Sequencing, Genomics, Precision medicine, medicine.disease, 030104 developmental biology, Molecular Diagnostic Techniques, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1173de8280348aa5f42f044dd074257
http://www.scopus.com/inward/record.url?scp=85058446440&partnerID=8YFLogxK

المؤلفون: Clara D, van Karnebeek, Ingrid, Blydt-Hansen, Allison M, Matthews, Vladimir, Avramovic, Magda, Price, Britt, Drogemoller, Casper, Shyr, Jessica, Lee, Jill, Mwenifumbo, Aisha, Ghani, Sylvia, Stockler, Jan M, Friedman, Anna, Lehman, Colin J, Ross, Wyeth W, Wasserman, Maja, Tarailo-Graovac, Gabriella A, Horvath

المصدر: Neurogenetics. 22(4)

مصطلحات موضوعية: Adult, Male, Biogenic Amines, Neurotransmitter Agents, Adolescent, Carbidopa, Kinesins, Levodopa, Drug Combinations, Young Adult, p21-Activated Kinases, Child, Preschool, Humans, Female, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::58278905f8859889c2f3f25aae31d585
https://pubmed.ncbi.nlm.nih.gov/34213677

المؤلفون: Chieko Chijiwa, Jill Mwenifumbo, Gui X Yang, Jan M. Friedman, Margot I. Van Allen, Alison M. Elliott, Anna Lehman, Causes Study, Lijia Huang, Patrice Eydoux, Tanya N. Nelson, Maria S. Peñaherrera, Wendy P. Robinson, Christèle du Souich, Raymond Y Cho, Shelin Adam

المصدر: American journal of medical genetics. Part AREFERENCES. 182(3)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Microcephaly, X-linked intellectual disability, 030105 genetics & heredity, Biology, Short stature, X-inactivation, 03 medical and health sciences, Exon, X Chromosome Inactivation, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Exome sequencing, X chromosome, Chromosomes, Human, X, Cerebral Palsy, Genetic Diseases, X-Linked, medicine.disease, DNA-Binding Proteins, 030104 developmental biology, Mutation, Mental Retardation, X-Linked, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba8e38381ca3f417f4844950fd054e0
https://pubmed.ncbi.nlm.nih.gov/31840929