نتائج البحث - "Allison Tam"

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دورية أكاديمية

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/c19fcc01932947f88e053f92d2e0e021

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دورية أكاديمية

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-1 (2023)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/b1f5932fcc964295b8b3d3403778b9ab

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3

دورية أكاديمية

Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

المؤلفون: Allison Tam, Kit Shan Lee, Sansan Lee, William Burkhalter, Lucio U. Pascua, Thomas P. Slavin

المصدر: Case Reports in Genetics, Vol 2013 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/9a174dc453704697a15fbaf5d82c206e

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Impact of the COVID ‐19 pandemic on medical genetics and genomics training: Perspective from clinical trainees

المؤلفون: Jirat Chenbhanich, Anne Slavotinek, Allison Tam

المصدر: American Journal of Medical Genetics Part A. 188:1997-2004

مصطلحات موضوعية: Genetics, Medical, Genetics, COVID-19, Humans, Internship and Residency, Genomics, Fellowships and Scholarships, Pandemics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d70ea778daf452a387f401bc643bb31a
https://doi.org/10.1002/ajmg.a.62736

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5

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

المؤلفون: Christopher Geoffrey Woods, Serkan Erdin, Feng Cong, Delphine Héron, Tamar Harel, Soo Yeon Kim, Jong Hee Chae, Vardiella Meiner, Boris Keren, Julien Buratti, Youngha Lee, Stephanie Booke, Lei Ji, Timothy Blake Palculict, Allison Tam

المصدر: Journal of Medical Genetics. 58:205-212

مصطلحات موضوعية: 0301 basic medicine, Genetics, biology, In silico, HEK 293 cells, Wnt signaling pathway, SIAH1, Protein ubiquitination, Ubiquitin ligase, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Ubiquitin, 030220 oncology & carcinogenesis, biology.protein, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51b1820290b1d62eff779ca8f12075f8
https://doi.org/10.1136/jmedgenet-2019-106335

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6

Quantification of Spatial and Temporal Trends in Atmospheric Mercury Deposition across Canada over the Past 30 Years

المؤلفون: Benjamin D. Barst, Xiaowa Wang, Greg Lawson, Jane L. Kirk, Marlene S. Evans, Johan A. Wiklund, Ashu Dastoor, Paul E. Drevnick, Sarah Roberts, Amber Gleason, Jonathan Keating, Martin Pilote, Jason M. E. Ahad, Allison Tam, Fan Yang, Derek C. G. Muir, Andrei Ryjkov, Colin A. Cooke

المصدر: Environmental sciencetechnology. 55(23)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::457a71c35213db1363625512f0c4fba8
https://pubmed.ncbi.nlm.nih.gov/34792335

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7

An injectable self-healing coordinative hydrogel with antibacterial and angiogenic properties for diabetic skin wound repair

المؤلفون: Jin Qi, Hao Chen, Lianfu Deng, Allison Tam, Yonghai Feng, Yufei Yan, Xin Zhao, Haokai Shen, Yuhui Zhang, Lei Liu, Ruoyu Cheng, Guoqing Pan, Yu Shrike Zhang, Wenguo Cui

المصدر: NPG Asia Materials, Vol 11, Iss 1, Pp 1-12 (2019)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a2ba22894e993593255a22e3ad86599
http://link.springer.com/article/10.1038/s41427-018-0103-9

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8

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

المصدر: Hum Genet
Human genetics, vol 140, iss 7

مصطلحات موضوعية: Foot Deformities, Male, Abnormalities, Multiple, Amino Acid Sequence, Cadherins, Cell Adhesion, Cell Movement, Craniofacial Abnormalities, Female, Foot Deformities, Congenital, Genetic Variation, Hand Deformities, Congenital, Heterozygote, Homozygote, Humans, Hypertelorism, Pedigree, Phenotype, Biology, Article, Focal adhesion, Paediatrics and Reproductive Medicine, 03 medical and health sciences, Congenital, Complementary and Alternative Medicine, medicine, Genetics, Missense mutation, 2.1 Biological and endogenous factors, Aetiology, Cell adhesion, Genetics (clinical), 030304 developmental biology, Genetics & Heredity, 0303 health sciences, Cadherin, 030305 genetics & heredity, Heterozygote advantage, Hand Deformities, Molecular biology, Transmembrane protein, medicine.symptom, Abnormalities, Multiple

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030edbe721add081a2170d0dc3066dce
http://hdl.handle.net/11697/179001

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Genome Editing in Neuroepithelial Stem Cells to Generate Human Neurons with High Adenosine-Releasing Capacity

المؤلفون: Philipp Koch, Christa E. Müller, Julius A. Steinbeck, Ruven Wilkens, Philip D. Gregory, Daniel Poppe, Marion Schneider, Julia Ladewig, Andreas Reik, David Paschon, Allison Tam, Jonas Doerr, Oliver Brüstle

المصدر: Stem Cells Translational Medicine

مصطلحات موضوعية: Gene‐editing, 0301 basic medicine, Adenosine, Neurodegeneration/Neurological Disorders, Human Embryonic Stem Cells, Cellular homeostasis, Adenosine kinase, Polymorphism, Single Nucleotide, Mass Spectrometry, Cell Line, Mice, 03 medical and health sciences, 0302 clinical medicine, Translational Research Articles and Reviews, Human neurons, Neural Stem Cells, medicine, Animals, Humans, Enabling Technologies for Cell-Based Clinical Translation, Adenosine Kinase, Chromatography, High Pressure Liquid, Gene Editing, Mice, Knockout, Neurons, Enabling Technologies for Cell‐Based Clinical Translation, Adenosine secretion, biology, Cell Biology, General Medicine, Gene Delivery Systems/Gene Therapy/Gene Editing Technology, Embryonic stem cell, Zinc Finger Nucleases, Neural stem cell, Neural/Progenitor Stem Cells, ADK, Cell biology, Mice, Inbred C57BL, Neuroepithelial cell, 030104 developmental biology, Karyotyping, biology.protein, Neuroepithelial stem cells, Stem cell, 030217 neurology & neurosurgery, Developmental Biology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c9130ac32fa7926737d8d4cf68800fa
https://doi.org/10.1002/sctm.16-0272

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10

Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

المؤلفون: Mahshid S. Azamian, Mahmoud A. Mohammad, Inka C Didelija, Sandesh C.S. Nagamani, Ann McMeans, Juan C. Marini, Umang Agarwal, Allison Tam

المصدر: Genetics in Medicine. 23:2227

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::deb4c42e3cde5e6f0b8032b79591b6c2
https://doi.org/10.1038/s41436-021-01099-9

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