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

URL الوصول: https://doaj.org/article/abfd1acb3f994c4088ffb37901d8f229

المؤلفون: Alyssa C. M. Joynt, Ashish R. Deshwar, Jessica Zon, Lucie Dupuis, Diane K. Wherrett, Roberto Mendoza‐Londono

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: brain anomalies, clinical genetics, endocrinology, growth hormone deficiency, unbalanced translocation, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1cbe99f8c96c431e9902bb75e780f41a

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

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

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

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9243d1864eb1fad0baf2211426031fd
https://doi.org/10.1111/cge.13804

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

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

Relation: https://elifesciences.org/articles/13758; https://doaj.org/toc/2050-084X; e13758; https://doaj.org/article/97bf3e6b876d4c03a1a021143bf49333

الاتاحة: https://doi.org/10.7554/eLife.13758
https://doaj.org/article/97bf3e6b876d4c03a1a021143bf49333

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 Medicine

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54d9bf7ff6030d0df3da44125b3d8bb
https://doaj.org/article/1cbe99f8c96c431e9902bb75e780f41a

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)

مصطلحات موضوعية: Genetics, QH426-470

Relation: http://europepmc.org/articles/PMC3708807?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404; https://doaj.org/article/ab76a1b77a544037ba7f516ea6b26768

الاتاحة: https://doi.org/10.1371/journal.pgen.1003612
https://doaj.org/article/ab76a1b77a544037ba7f516ea6b26768

المؤلفون: Jennifer Stimec, Jennifer Harrington, Malte Spielmann, Peter Kannu, Lisa Vi, Lucie Dupuis, Ashish R. Deshwar, Roberto Mendoza-Londono, Andrew W. Howard

المصدر: American Journal of Medical Genetics Part A. 179:663-667

مصطلحات موضوعية: Male, Hyperparathyroidism, Parathyroid Hormone-Related Protein, Disease, Regulatory Sequences, Nucleic Acid, Biology, Prognosis, medicine.disease, Parathyroid hormone like hormone, Regulatory sequence, Mutation, Genetics, medicine, Cancer research, Humans, Coding region, Child, Enhancer, Multiple fractures, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d526269695d073bde9bd6d23869e45
https://doi.org/10.1002/ajmg.a.61071

المؤلفون: Nicole Martin, Patrick Shannon, Ashish R. Deshwar, David Chitayat

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Anencephaly, Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ded1b488d96d0d10adc09855a623b47
https://doi.org/10.1111/cge.13804/v2/response1

المؤلفون: Carsten Bergmann, Lucie Dupuis, James Stavropoulos, Roberto Mendoza-Londono, Ashish R. Deshwar

المصدر: American Journal of Medical Genetics Part A. 176:450-454

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Methyl-CpG-Binding Protein 2, Developmental Disabilities, MECP2 duplication syndrome, Dwarfism, 030105 genetics & heredity, Biology, MECP2, 03 medical and health sciences, 0302 clinical medicine, Short Stature Homeobox Protein, 030225 pediatrics, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Femur, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Bone Diseases, Developmental, Chromosomes, Human, X, Rhizomelia, Infant, Karyotype, Humerus, medicine.disease, Xq28, Karyotyping, Female, Chromosome Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c23b3843aec41d8129731cad0ff2e3b
https://doi.org/10.1002/ajmg.a.38570

المؤلفون: Lindsay A. Phillips, Pia C. Svendsen, Ashish R. Deshwar, Nima Najand, Jae-Ryeon Ryu, William J. Brook

المصدر: Developmental biology. 455(1)

مصطلحات موضوعية: TBX20, Mutant, Repressor, Biology, Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Animals, Drosophila Proteins, Enhancer, Molecular Biology, Transcription factor, Psychological repression, 030304 developmental biology, Body Patterning, Regulation of gene expression, 0303 health sciences, Gene Expression Regulation, Developmental, Extremities, Cell Biology, Cell biology, Imaginal disc, Drosophila melanogaster, Imaginal Discs, Mutation, T-Box Domain Proteins, 030217 neurology & neurosurgery, Developmental Biology, Signal Transduction, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d36755b09ef8ce59b2681040a411f82e
https://pubmed.ncbi.nlm.nih.gov/31299230

المؤلفون: Meaghan Leslie, Natalie Gibb, Xuefei Yuan, Ian C. Scott, Savo Lazic, Michael D. Wilson, Ashish R. Deshwar

المصدر: Development (Cambridge, England). 145(22)

مصطلحات موضوعية: 0301 basic medicine, Cardiac progenitors, Cell Count, Biology, 03 medical and health sciences, 0302 clinical medicine, biology.animal, Basic Helix-Loop-Helix Transcription Factors, Animals, Cell Lineage, Myocytes, Cardiac, HEY2, Molecular Biology, Zebrafish, Progenitor, Cell Proliferation, Cell Size, Heart development, Myocardium, Stem Cells, Vertebrate, Gene Expression Regulation, Developmental, Heart, Zebrafish Proteins, biology.organism_classification, Cell biology, Transplantation, Fibroblast Growth Factors, 030104 developmental biology, Cardiovascular Diseases, Mutation, 030217 neurology & neurosurgery, Function (biology), Developmental Biology, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eee1ff2aa566402e4ae989cba9c9f254
https://pubmed.ncbi.nlm.nih.gov/30355727

المؤلفون: Ashish R. Deshwar, Wilson, Ian C. Scott, Xuefei Yuan, Savo Lazic, Natalie Gibb

مصطلحات موضوعية: 0303 health sciences, education.field_of_study, Cardiac progenitors, Heart development, Population, Anatomy, Biology, biology.organism_classification, Cell biology, 03 medical and health sciences, 0302 clinical medicine, Progenitor cell, education, HEY2, Developmental biology, Zebrafish, 030217 neurology & neurosurgery, 030304 developmental biology, Progenitor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8240f2e4762e4ba82f5aee1c36c52b
https://doi.org/10.1101/199638

المؤلفون: Ian C. Scott, Lena Ho, Serene C Chng, Bruno Reversade, Ashish R. Deshwar

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, Biology, NODAL, Cell biology, Apelin receptor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3626a59fdd8161b3bc52d2fb6c27f3c7
https://doi.org/10.7554/elife.13758.019

المؤلفون: Serene C Chng, Bruno Reversade, Ashish R. Deshwar, Ian C. Scott, Lena Ho

المساهمون: ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Center for Reproductive Medicine

المصدر: eLife, Vol 5 (2016)
eLife, 5. eLife Sciences Publications
eLife

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cell type, Nodal Protein, QH301-705.5, Science, Short Report, Nodal signaling, Nodal, Biology, General Biochemistry, Genetics and Molecular Biology, Receptors, G-Protein-Coupled, 03 medical and health sciences, 0302 clinical medicine, Transforming Growth Factor beta, Internal medicine, cardiac progenitors, medicine, Animals, Biology (General), Zebrafish, Apelin receptor, Apelin Receptors, General Immunology and Microbiology, mesendoderm, General Neuroscience, Heart, Lefty, General Medicine, Transforming growth factor beta, heart development, Zebrafish Proteins, biology.organism_classification, Aplnr, 3. Good health, Cell biology, Developmental Biology and Stem Cells, 030104 developmental biology, Endocrinology, biology.protein, Medicine, Stem cell, NODAL, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ff7274a50917b1c1c60a1a1aa5a517
https://elifesciences.org/articles/13758

المؤلفون: John C. Onderisin, Ian C. Scott, Anastasiia Aleksandrova, Jeffrey T. A. Burrows, Xuefei Yuan, Ashish R. Deshwar

المصدر: Developmental biology. 418(1)

مصطلحات موضوعية: 0301 basic medicine, Mesoderm, Cardiac progenitors, GATA5 Transcription Factor, Morpholinos, 03 medical and health sciences, 0302 clinical medicine, Transcription (biology), medicine, Basic Helix-Loop-Helix Transcription Factors, Animals, Myocytes, Cardiac, Molecular Biology, Transcription factor, Zebrafish, Body Patterning, Genetics, biology, Gastrulation, Embryo, Cell migration, Cell Differentiation, Heart, Cell Biology, Zebrafish Proteins, biology.organism_classification, Cell biology, 030104 developmental biology, medicine.anatomical_structure, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833bcb0ac5b15daa8ab3f8f4d0b8117c
https://pubmed.ncbi.nlm.nih.gov/27554166