نتائج البحث - "Claire L. S. Turner"

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دورية أكاديمية

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

المؤلفون: Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/59c29ea90e714804ab5f4038f2662271

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PPA2-associated sudden cardiac death

المؤلفون: Charlotte V. Y. Knowles, Anil Kanthi, Carolyn Tysoe, Georgia Spentzou, Claire L. S. Turner, Jan A Till, Liza K. Phillips, Anne Moreau de Bellaing, Diptendu Chatterjee, Alexandre Janin, Paul French, Tamara T. Koopmann, Anju Shukla, Melanie T. Achleitner, Loïc de Pontual, Matthew S. Edwards, Deborah J. Morris-Rosendahl, Noha Elserafy, Kirti Mittal, Jessie Cameron, Wendy K. Chung, Saskia B. Wortmann, Sajel L Kana, Kit Doudney, Robert G. Weintraub, Peter M George, Priyanka Ahimaz, Kyla Dunn, Ona Faye-Petersen, Katta M. Girisha, Hannah L. Kennedy, Kate S Lichkus, Alexa Kidd, Sumith Parikh, Jason D. Merker, Megan E. Grove, Ruth McGowan, Laura Brett, Anna C.E. Hurst, Jeanne Amiel, Bindu Parayil Sankaran, Dianna G. Fisk, Clémantine Dimartino, Charlotte L. Alston, Michelle L. Thompson, Johannes A. Mayr, Tessa Homfray, Alan Ma, Robert McFarland, Muhammad A Rafiq, Anne Guimier, Robert M Hamilton, Christian Turner, Karen McLeod, Christopher T. Gordon, Robert W. Taylor, David R. Thorburn, Florence van den Broek, Carolyn Ellaway, Fanny Bajolle

المصدر: Genetics in Medicine, 23, 2415-2425
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b33a647ce6ed7623f3dcf7ef17e6291
https://hdl.handle.net/1887/3250866

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3

Mosaic Turner syndrome shows reduced penetrance in an adult population study

المؤلفون: Marcus A, Tuke, Katherine S, Ruth, Andrew R, Wood, Robin N, Beaumont, Jessica, Tyrrell, Samuel E, Jones, Hanieh, Yaghootkar, Claire L S, Turner, Mollie E, Donohoe, Antonia M, Brooke, Morag N, Collinson, Rachel M, Freathy, Michael N, Weedon, Timothy M, Frayling, Anna, Murray

المصدر: Genetics in Medicine

مصطلحات موضوعية: Adult, Chromosomes, Human, X, trisomy, Turner syndrome, Karyotype, Penetrance, Middle Aged, Polymorphism, Single Nucleotide, United Kingdom, Article, Genetics, Population, Phenotype, mosaicism, Humans, Female, aneuploidy, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3234448788ca380564b32cfb3281091d
http://europepmc.org/articles/PMC6752315

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4

Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy

المصدر: Clinical geneticsREFERENCES. 98(4)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98a8c488da8b132f34642c2fa7630e79
https://pubmed.ncbi.nlm.nih.gov/32666529

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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

المصدر: American Journal of Human Genetics, 101, 1, pp. 139-148
American Journal of Human Genetics, 101(1), 139. Cell Press
American Journal of Human Genetics, 101, 139-148

مصطلحات موضوعية: Male, 0301 basic medicine, RNA Stability, Haploinsufficiency, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Seizures, Report, Intellectual Disability, Intellectual disability, Journal Article, Genetics, Spastic, medicine, Humans, Missense mutation, Genetics(clinical), Amino Acid Sequence, Child, Preschool, Gait, Exome, Genetics (clinical), Adaptor Proteins, Signal Transducing, 1q41q42 microdeletion syndrome, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Facies, Proteins, Syndrome, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Female, Growth and Development, Chromosome Deletion, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]