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1دورية أكاديمية
المؤلفون: Ashish R Deshwar, Serene C Chng, Lena Ho, Bruno Reversade, Ian C Scott
المصدر: eLife, Vol 5 (2016)
مصطلحات موضوعية: Aplnr, Nodal, cardiac progenitors, heart development, mesendoderm, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Lois Kelsey, Ann M Flenniken, Dawei Qu, Alister P W Funnell, Richard Pearson, Yu-Qing Zhou, Irina Voronina, Zorana Berberovic, Geoffrey Wood, Susan Newbigging, Edward S Weiss, Michael Wong, Ivan Quach, S Y Sandy Yeh, Ashish R Deshwar, Ian C Scott, Colin McKerlie, Mark Henkelman, Peter Backx, Jeremy Simpson, Lucy Osborne, Janet Rossant, Merlin Crossley, Benoit Bruneau, S Lee Adamson
المصدر: PLoS Genetics, Vol 9, Iss 7, p e1003612 (2013)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 18 (2023)
مصطلحات موضوعية: Hepatology, Muscle biology, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1558-8238
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المؤلفون: Ashish R. Deshwar, Kyoko E. Yuki, Huayun Hou, Yijing Liang, Tayyaba Khan, Alper Celik, Arun Ramani, Roberto Mendoza-Londono, Christian R. Marshall, Michael Brudno, Adam Shlien, M. Stephen Meyn, Robin Z. Hayeems, Brandon J. McKinlay, Panagiota Klentrou, Michael D. Wilson, Lianna Kyriakopoulou, Gregory Costain, James J. Dowling
المصدر: The American Journal of Human Genetics. 110:895-900
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8cfca4c2bffc04aa48091377f4160275
https://doi.org/10.1016/j.ajhg.2023.03.006 -
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المؤلفون: Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James J Dowling, Rosanna Weksberg
المساهمون: Deshwar, Ashish R [0000-0002-9239-3846], Scherer, Stephen W [0000-0002-8326-1999], Nicolas, Gaël [0000-0001-9391-7800], Dabaj, Ivana [0000-0002-2324-1208], Dowling, James J [0000-0002-3984-4169], Apollo - University of Cambridge Repository
مصطلحات موضوعية: brain calcifications, CLDN5, blood brain barrier, Neurology (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f5b7a48a2c525d610b1e49ea2bf631
https://www.repository.cam.ac.uk/handle/1810/344185 -
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المؤلفون: Daphne J Smits, Rachel Schot, Nathalie Krusy, Katja Wiegmann, Olaf Utermöhlen, Monique T Mulder, Sandra den Hoedt, Grace Yoon, Ashish R Deshwar, Christina Kresge, Beth Pletcher, Maura van Mook, Marta Serio Ferreira, Raymond A Poot, Johan A Slotman, Gert-Jan Kremers, Abeer Ahmad, Buthaina Albash, Laila Bastaki, Dana Marafi, Jordy Dekker, Tjakko J van Ham, Laurent Nguyen, Grazia M S Mancini
المصدر: Brain.
مصطلحات موضوعية: Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0b9f4b88e557c37bd1237a4db1bf20f3
https://doi.org/10.1093/brain/awad033 -
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المؤلفون: Rachel Youjin Oh, Ashish R. Deshwar, Ashish Marwaha, Nesrin Sabha, Michael Tropak, Huayun Hou, Kyoko E. Yuki, Michael D. Wilson, Patrick Rump, Roelineke Lunsing, Noha Elserafy, Clara W.T. Chung, Stacy Hewson, Tanja Klein-Rodewald, Julia Calzada-Wack, Adrián Sanz-Moreno, Markus Kraiger, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, James Dowling, Andreas Schulze
المصدر: Genetics in Medicine, 24(11), 2399-2407. Nature Publishing Group
مصطلحات موضوعية: Mice, Knockout, GTPase-activating protein, TOR Serine-Threonine Kinases, Autosomal recessive, Syndrome, Neurodevelopmental syndrome, Pedigree, Mice, Neurodevelopmental Disorders, Intellectual Disability, Microcephaly, Animals, Humans, Female, Genetics (clinical), Novel Mendelian disorder, Hydrocephalus
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4006eadaa5c88a463f9e36bd8a9187cc
https://research.rug.nl/en/publications/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8 -
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المؤلفون: Jessica R.C. Priestley, Ashish R. Deshwar, Harsha Murthy, Maria Daniela D’Agostino, Lucie Dupuis, Balram Gangaram, Christopher Gray, Rebekah Jobling, Emanuela Pannia, Konrad Platzer, Katrina Prescott, Melody Redman, Alyssa L. Rippert, Jill A. Rosenfeld, Daryl A. Scott, Yi Wen Wang, Zelia Schmederer, Ashwin Dalal, Asodu Sandeep Sarma, Cara Skraban, James.J. Dowling, Roberto Mendoza-Londono, Anne Slavotinek, Elizabeth J. Bhoj
المصدر: Genetics in Medicine. :100863
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::34abe6d93f11d617315a107d363217fc
https://doi.org/10.1016/j.gim.2023.100863 -
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المؤلفون: David Chitayat, Patrick Shannon, Ashish R. Deshwar, Nicole Martin
المصدر: Clinical Genetics. 98:299-302
مصطلحات موضوعية: medicine.medical_specialty, Cleft Lip, ved/biology.organism_classification_rank.species, Biology, Fetus, Loss of Function Mutation, Anencephaly, Genetics, medicine, Humans, Neural Tube Defects, Model organism, Genetics (clinical), Loss function, ved/biology, Homozygote, Microfilament Proteins, Neural tube, Microarray Analysis, medicine.disease, Cleft Palate, medicine.anatomical_structure, Neurulation, Etiology, Medical genetics, Female
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المؤلفون: Lucie Dupuis, Roberto Mendoza-Londono, Alyssa C. M. Joynt, Jessica Zon, Ashish R. Deshwar, Diane K. Wherrett
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Proband, growth hormone deficiency, Monosomy, Chromosomal translocation, Chromosome Disorders, Trisomy, Biology, QH426-470, Short stature, Clinical Reports, Translocation, Genetic, Growth hormone deficiency, endocrinology, medicine, Genetics, Humans, Global developmental delay, Molecular Biology, Genetics (clinical), Clinical Report, Chromosomes, Human, Pair 13, Brain, Karyotype, medicine.disease, Growth Hormone, Chromosomes, Human, Pair 5, unbalanced translocation, Female, brain anomalies, medicine.symptom, Chromosome Deletion, clinical genetics