المؤلفون: Aren E. Marshall, Stella K. MacDonald, Yijing Liang, Madeline Couse, Care4Rare Canada Consortium, Kym M. Boycott, Julie Richer, Kristin D. Kernohan

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)

مصطلحات موضوعية: DYNC2H1, postaxial polydactyly, RNA‐Seq, short rib polydactyly, short‐rib thoracic dysplasia 3, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/f01ce40dc9534065bd30512f67b34751

المؤلفون: Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

المصدر: HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)

مصطلحات موضوعية: WDR5, COMPASS, neurodevelopmental disorders, intellectual disability, Mendelian disorders, multiple congenital abnormalities, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000744; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8

المؤلفون: Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Rachel Toth, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/2d52100e1cdb40aa897c41b55f0c87e6

المؤلفون: Mary E. McQuaid, Kashif Ahmed, Stephanie Tran, Justine Rousseau, Ranad Shaheen, Kristin D. Kernohan, Kyoko E. Yuki, Prerna Grover, Ema S. Dreseris, Sameen Ahmed, Lucie Dupuis, Jennifer Stimec, Mary Shago, Zuhair N. Al-Hassnan, Roch Tremblay, Philipp G. Maass, Michael D. Wilson, Eyal Grunebaum, Kym M. Boycott, François-Michel Boisvert, Sateesh Maddirevula, Eissa A. Faqeih, Fahad Almanjomi, Zaheer Ullah Khan, Fowzan S. Alkuraya, Philippe M. Campeau, Peter Kannu, Eric I. Campos, Hugo Wurtele

المصدر: JCI Insight, Vol 7, Iss 10 (2022)

مصطلحات موضوعية: Cell biology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/3826d777770e43a3ada9bdd9c34ba315

المؤلفون: Kristin D. Kernohan, Nathalie G. Bérubé

المصدر: MethodsX, Vol 1, Iss C, Pp 30-35 (2014)

مصطلحات موضوعية: FISH, cryosections, tissue, fluorescence, confocal microscopy, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221501611420032X; https://doaj.org/toc/2215-0161

URL الوصول: https://doaj.org/article/eb98a9d6a64743ddbbf78c500abdf5c4

المؤلفون: Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A. Dyment, Kristin D. Kernohan

المصدر: Genes; Volume 14; Issue 1; Pages: 108

مصطلحات موضوعية: polymicrogyria, tubulinopathy, exome sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14010108

الاتاحة: https://doi.org/10.3390/genes14010108

المؤلفون: Priya T. Bhola, Aren E. Marshall, Yijing Liang, Madeline Couse, Xueqi Wang, Elka Miller, Chantal F. Morel, Kym M. Boycott, Kristin D. Kernohan

المصدر: American Journal of Medical Genetics Part A. 191:1664-1668

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e865428941bfeb68bb9f46e310a624ee
https://doi.org/10.1002/ajmg.a.63184

المؤلفون: Daniel I. Weiman BSc, Meredith K. Gillespie MSc, Taila Hartley MSc, Matthew Osmond MSc, Yoko Ito PhD, Kym M. Boycott MD, PhD, Kristin D. Kernohan PhD, Matthew Lines MD, Hugh J. McMillan MD, MSc

المصدر: Child Neurology Open, Vol 8 (2021)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1177/2329048X211031059; https://doaj.org/toc/2329-048X; https://doaj.org/article/32af4dc202bc4a07bb4ad8a63e3453d4

الاتاحة: https://doi.org/10.1177/2329048X211031059
https://doaj.org/article/32af4dc202bc4a07bb4ad8a63e3453d4

المؤلفون: Yan Huang, Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A. High, Melissa A. Walker, Lance H. Rodan, Michael F. Wangler, Shinya Yamamoto, Kristin D. Kernohan, David A. Sweetser, Kym M. Boycott, Hugo J. Bellen

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 109(10), 1923-1931. Cell Press
Am J Hum Genet

مصطلحات موضوعية: DNA, Complementary, Microfilament Proteins, Mutation, Missense, Correction, Membrane Proteins, Nervous System Malformations, Phenotype, Report, Intellectual Disability, Microcephaly, Genetics, Animals, Humans, Drosophila, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f3c5743b62a5fb842b71f4a216459fe
https://doi.org/10.1016/j.ajhg.2022.08.011

المؤلفون: Kym M. Boycott, Lyndon Gallacher, Aziz Mhanni, Simon Sadedin, Xiaomin Dong, Kristin D. Kernohan, Arran McBride, Ismaël Alidou-D'Anjou, John Christodoulou, Zornitza Stark, Aren E Marshall, François Dragon, Samantha E Marin, Patrick Frosk, Marc R. Del Bigio, Sophie Sleiman

المصدر: Human Molecular Genetics. 31:614-624

مصطلحات موضوعية: Genetics, Dystonia, Saccharomyces cerevisiae Proteins, Neurodegeneration, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Saccharomyces cerevisiae, General Medicine, Biology, medicine.disease, Compound heterozygosity, Phenotype, Dystonic Disorders, medicine, Humans, Small nucleolar RNA, RRNA processing, Molecular Biology, Genetics (clinical), Exome sequencing, Ribonucleoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6876a2f473d6b0271228df3c24e60761
https://doi.org/10.1093/hmg/ddab247

المؤلفون: Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie R. Pallares, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W. E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella M. Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce B. Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M. A. M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Delphine Heron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman‐Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Pediatrics, Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B., Levy, Michael A, Relator, Raissa, Mcconkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomare, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angu, Dupont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niel, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thoma, Kernohan, Kristin D, Mcneill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charle, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Human Genetics, General Paediatrics, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis

المصدر: Human Mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(11), 1609-1628. WILEY
Human mutation, 43(11), 1609-1628. Wiley-Liss Inc.
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446

مصطلحات موضوعية: DNA methylation, clinical diagnostics, Syndrome, DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes, neurodevelopmental syndromes, Epigenesis, Genetic, Neurodevelopmental Disorders, Genetics, Humans, CpG Islands, DNA, Intergenic, episignatures, Episignature, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa933745b4435f831f0ab98620d9364
https://research.vumc.nl/en/publications/13d0dd51-76a9-4868-ac6b-44bb728ad6bf

المؤلفون: Kym M. Boycott, Kristin D. Kernohan, Matt Osmond, Pranesh Chakraborty, Hugh J. McMillan, David A. Dyment, Jorge Davila

المصدر: American Journal of Medical Genetics Part A. 185:3502-3506

مصطلحات موضوعية: Microcephaly, Spondyloepimetaphyseal dysplasia, Pediatrics, medicine.medical_specialty, business.industry, Mitochondrial disease, Disease, medicine.disease, Genetics, medicine, Decompensation, Primordial dwarfism, business, Exome, Genetics (clinical), Encephalitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5c2971ff6b0890329e4807b9bc615627
https://doi.org/10.1002/ajmg.a.62457

المؤلفون: Mylene Theriault, Pranesh Chakraborty, Christina Blagojevic, Aoy Tomita-Mitchell, Kristin D. Kernohan, Tracy Heung, Dennis E. Bulman, Anne S. Bassett

المصدر: CMAJ Open

مصطلحات موضوعية: Male, medicine.medical_specialty, Cross-sectional study, Developmental Disabilities, Birth weight, Population, Gestational Age, Neonatal Screening, Early Medical Intervention, Prenatal Diagnosis, DiGeorge Syndrome, Prevalence, medicine, Humans, education, Ontario, education.field_of_study, Newborn screening, Obstetrics, business.industry, Research, Infant, Newborn, Gestational age, General Medicine, Odds ratio, Infant, Low Birth Weight, Confidence interval, Cross-Sectional Studies, Molecular Diagnostic Techniques, Female, Severe Combined Immunodeficiency, business, Live birth, Live Birth, Maternal Age

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80077b985c031e50b4048423e02a559e
https://doi.org/10.9778/cmajo.20200294

المؤلفون: Meredith Wilson, Carmen Espejo-Serrano, Francisco Bustos, Anna Segarra-Fas, Kristin D. Kernohan, Rachel Toth, Lisa G. Riley, Greg M. Findlay, Alison Eaton

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Male, Embryonic stem cells, Ubiquitin-Protein Ligases, Science, Mutation, Missense, 030105 genetics & heredity, Article, Craniofacial Abnormalities, 03 medical and health sciences, Ubiquitylated proteins, Intellectual Disability, Diagnosis, Missense mutation, Humans, Gene, Ubiquitins, Hernia, Diaphragmatic, Multidisciplinary, biology, Disease model, Hypogonadism, Neurodevelopmental disorders, Infant, Newborn, Ubiquitination, RNA, Development of the nervous system, Paediatrics, Phenotype, Embryonic stem cell, Ubiquitin ligase, Cell biology, 030104 developmental biology, Mechanisms of disease, Proteasome, biology.protein, Diseases of the nervous system, Medicine, XIST, Intracellular signalling peptides and proteins, Neurological disorders, Post-translational modifications

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f3a0486a9dde3a9fdb4c4e793e2716f
https://doaj.org/article/2d52100e1cdb40aa897c41b55f0c87e6

المؤلفون: Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, David A. Dyment, Heather Howley, A. Micheil Innes, Francois P. Bernier, Michael Brudno

المصدر: Am J Hum Genet

مصطلحات موضوعية: Canada, Rare Diseases, Exome Sequencing, Perspective, Genetics, Humans, Exome, Genetics (clinical), Genetic Association Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd77d13a2c87542bbe7bf32ad86cafbe
https://pubmed.ncbi.nlm.nih.gov/36332610

المؤلفون: Hernan Gonorazky, Melanie Lacaria, Ed Yeh, Mark A. Tarnopolsky, Pranesh Chakraborty, James J. Dowling, Craig Campbell, Janet Marcadier, Jiri Vajsar, Michael Kowalski, Kristin D. Kernohan, Alex MacKenzie, Hugh J. McMillan

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 49:821-823

مصطلحات موضوعية: Ontario, Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Infant, Newborn, MEDLINE, General Medicine, Spinal muscular atrophy, medicine.disease, Muscular Atrophy, Spinal, Neonatal Screening, Neurology, medicine, Humans, Genetic Testing, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cd220040193dc2d1d7c3142c132f4de
https://doi.org/10.1017/cjn.2021.231

المؤلفون: Rebecca C. Spillmann, Nissan V. Baratang, Kym M. Boycott, Karen W. Gripp, Taila Hartley, Anik St-Denis, Philippe M. Campeau, Kristin D. Kernohan, Erik A. Eklund, Jessica L. Zambonin, Loren D M Pena, Michael T. Geraghty, Andrew C. Edmondson, Jacek Majewski, Hugh J. McMillan, Allan Bayat, Miao He, Manuela Pendziwiat, Eric Bareke, Andrea Guerin, Thi Tuyet Mai Nguyen, Julie Richer, Devon L. Johnstone, Hilde M. H. Braakman

المصدر: Johnstone, D L, Nguyen, T T M, Zambonin, J, Kernohan, K D, St-Denis, A, Baratang, N V, Hartley, T, Geraghty, M T, Richer, J, Majewski, J, Bareke, E, Guerin, A, Pendziwiat, M, Pena, L D M, Braakman, H M H, Grip, K W, Edmondson, A C, He, M, Spillmann, R C, Eklund, E A, Bayat, A, Network, U D, McMillan, H J, Boycott, K M, Campeau, P M & Care4Rare Canada Consortium 2020, ' Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature ', Journal of Inherited Metabolic Disease, vol. 43, no. 6, pp. 1321-1332 . https://doi.org/10.1002/jimd.12278
Journal of Inherited Metabolic Disease

مصطلحات موضوعية: HYPERPHOSPHATASIA, Male, GLYCOSYLPHOSPHATIDYLINOSITOL, Disease, Immunoglobulin D, Fatal Outcome, 0302 clinical medicine, 1ST STEP, PIGQ, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, biology, medicine.diagnostic_test, rare diseases, DEFECTS, Transfection, Phenotype, 3. Good health, epileptic encephalopathy, Child, Preschool, Muscle Hypotonia, Original Article, Female, medicine.symptom, Spasms, Infantile, DISORDERS, Mutation, Missense, Status epilepticus, Flow cytometry, 03 medical and health sciences, Seizures, Exome Sequencing, Genetics, medicine, Humans, BIOSYNTHESIS, Abnormalities, Multiple, IGD, Gene, 030304 developmental biology, MUTATIONS, business.industry, Infant, Newborn, Infant, Membrane Proteins, Original Articles, GENE, GPI, Immunology, biology.protein, business, exome sequencing, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d6d8500b9fbd648f12c1288d7960cc1
https://doi.org/10.1002/jimd.12278

المؤلفون: Hannah G, Driver, Taila, Hartley, E Magda, Price, Andrei L, Turinsky, Orion J, Buske, Matthew, Osmond, Arun K, Ramani, Emily, Kirby, Kristin D, Kernohan, Madeline, Couse, Hillary, Elrick, Kevin, Lu, Pouria, Mashouri, Aarthi, Mohan, Delvin, So, Conor, Klamann, Hannah G B H, Le, Andrea, Herscovich, Christian R, Marshall, Andrew, Statia, Care Rare, Canada Consortium, Bartha M, Knoppers, Michael, Brudno, Kym M, Boycott

المصدر: Human mutation. 43(6)

مصطلحات موضوعية: Canada, Phenotype, Rare Diseases, Humans, Prospective Studies, Genetic Association Studies, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2509daedec9a1cd7a4cbef0069405502
https://pubmed.ncbi.nlm.nih.gov/35181971

المؤلفون: Matthew Osmond, Taila Hartley, David A. Dyment, Kristin D. Kernohan, Michael Brudno, Orion J. Buske, A. Micheil Innes, Kym M. Boycott, Kym Boycott, Francois Bernier, Clara van Karnebeek, David Dyment, Kristin Kernohan, Micheil Innes, Ryan Lamont, Jillian Parboosingh, Deborah Marshall, Christian Marshall, Roberto Mendoza, James Dowling, Robin Hayeems, Bartha Knoppers, Anna Lehman, Sara Mostafavi

المساهمون: VU University medical center, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Paediatrics

المصدر: Genetics in Medicine, 24(1), 100-108. Lippincott Williams and Wilkins
Genetics in medicine, 24(1), 100-108. Lippincott Williams and Wilkins
Care4Rare Canada Consortium 2022, ' Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery : The 2-year experience of Care4Rare Canada ', Genetics in Medicine, vol. 24, no. 1, pp. 100-108 . https://doi.org/10.1016/j.gim.2021.08.014

مصطلحات موضوعية: Canada, 0303 health sciences, Information Dissemination, GeneMatcher, Matchmaker exchange, Rare diseases, PhenomeCentral, 03 medical and health sciences, Phenotype, 0302 clinical medicine, Databases, Genetic, Humans, Data sharing, Genetic Association Studies, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7efeb0aa7a0464da98a39699fed7beed
https://research.vumc.nl/en/publications/3f110bf7-df13-477a-b69e-084e3705637e

المؤلفون: Aren E Marshall, Nadie Rioux, Adrie D Dane, Tipu Sultan, Kristin D. Kernohan, Nataly Laflamme, Lauren Brady, Cynthia J. Curry, Taila Hartley, Kym M. Boycott, Nicolas Chrestian, Alexa Derksen, Frédéric M. Vaz, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson, Gabrielle Lemire, Yoko Ito, H. T. Hutchison, Wendy Mears, Lynn Pais, Mark A. Tarnopolsky, Valentina Stanley

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Personalized Medicine, APH - Methodology

المصدر: American journal of human genetics, 108(10), 2017-2023. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Adult, Male, Adolescent, lysophosphatidylserine, Hereditary spastic paraplegia, Central nervous system, Corpus callosum, Bioinformatics, White matter, Cohort Studies, Young Adult, Leukoencephalopathies, Report, Intellectual disability, Genetics, Medicine, Humans, Global developmental delay, hereditary spastic paraplegia, Child, Genetics (clinical), business.industry, Spastic Paraplegia, Hereditary, Cerebral Palsy, ABHD16A, medicine.disease, Monoacylglycerol Lipases, Pedigree, medicine.anatomical_structure, Phenotype, intellectual disability, Child, Preschool, Mutation, Etiology, Progressive spasticity, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f2758737add27751db9f675bab50a1
https://pure.amc.nl/en/publications/abhd16a-deficiency-causes-a-complicated-form-of-hereditary-spastic-paraplegia-associated-with-intellectual-disability-and-cerebral-anomalies(38d751fe-7ab9-4eaf-97f5-ae00c9af11b4).html