المؤلفون: Craig Smail, Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren A. Cheung, Jeffrey J. Johnston, Cassandra Barrett, Genomic Answers for Kids Consortium, Keith Feldman, Ana S. A. Cohen, Emily G. Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastinen

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/ba3f8c0e8d37484786aec71e82e5e7fc

المؤلفون: Marissa R. Keever-Keigher, Lisa Harvey, Veronica Williams, Carrie A. Vyhlidal, Atif A. Ahmed, Jeffery J. Johnston, Daniel A. Louiselle, Elin Grundberg, Tomi Pastinen, Craig A. Friesen, Rachel Chevalier, Craig Smail, Valentina Shakhnovich

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: single-cell, RNA-seq, gastrointestinal disorder, pediatrics, genomics, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1420208/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/a2f85ac5e21041d7ad71c85d212e9cff

المؤلفون: Cristian Groza, Carl Schwendinger-Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/7e47b2f69dc14f2886381cefa394ddd5

المؤلفون: Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: FOLR1, Hypomyelination, Leukodystrophy, Cerebral folate deficiency, Folinic acid, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/069bc339519c472a91b38f2db7cff481

المؤلفون: Emily Farrow, Carol Saunders, Margaret Gibson, Adam Walter, Ana S.A. Cohen, Joseph Alaimo, Tricia Zion, Charlie Bi, YuXin Zhou, Guil Bourque, Adam Johnson, Byunggil Yoo, Carl Schwendinger-Schreck, Jeff Johnston, Warren Cheung, Tomi Pastinen, Isabelle Thiffault

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101471- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006174; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/fb01e5ac59e14bd59b7d8cbd61cb1bf3

المؤلفون: Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101730- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424008768; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/11fc808128fd48f381faad5e2499c307

المؤلفون: Ana S.A. Cohen, Cassandra Barrett, Tricia Zion, Riley Moore, Emelia Boillat, Bradley Belden, Emily Farrow, Isabelle Thiffault, Courtney Berrios, Britton Zuccarelli, Tomi Pastinen

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101782- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009282; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/914a2d85ae5841fabb3e86af87d02d8d

المؤلفون: Cas LeMaster, Stephen H. Pierce, Eric S. Geanes, Santosh Khanal, Staci S. Elliott, Allison B. Scott, Daniel A. Louiselle, Rebecca McLennan, Devika Maulik, Tamorah Lewis, Tomi Pastinen, Todd Bradley

المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/c54960105c8d48d4a967098069dc9f3c

المؤلفون: Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S. A. Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/10ee8f5178214fda98a06dc46647c12e

المؤلفون: Julia Macintosh, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Kether Guerrero, Chitra Prasad, Asuri N. Prasad, Tomi Pastinen, Isabelle Thiffault, Benoit Coulombe, Geneviève Bernard

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: POLR3-related leukodystrophy, 4H leukodystrophy, hypomyelination, RNA polymerase III, POLR3D, RPC4, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1254140/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/29e8d5ae09184e7c941a524a3255f883

المؤلفون: Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, Isabelle Thiffault, Peter V. Gould, Geneviève Bernard

المصدر: Frontiers in Cellular Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: neuropathology, COA8-related leukoencephalopathy, COX deficiency, APOPT1, cavitating leukoencephalopathy, mitochondrial disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2023.1216487/full; https://doaj.org/toc/1662-5102

URL الوصول: https://doaj.org/article/b80c20556a0a41c5858f5de95b4f0c2d

المؤلفون: Megan H. Tucker, Wei Yu, Heather Menden, Sheng Xia, Carl F. Schreck, Margaret Gibson, Daniel Louiselle, Tomi Pastinen, Nikita Raje, Venkatesh Sampath

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 11 (2023)

مصطلحات موضوعية: Genetics, Infectious disease, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/32b148b771ed4cf486ea79c96811dfcd

المؤلفون: Jasmine A. McQuerry, Merry Mclaird, Samantha N. Hartin, John C. Means, Jeffrey Johnston, Tomi Pastinen, Scott T. Younger

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/db5cf431cf4e485abc023b16b1f5c44e

المؤلفون: Stefanie Perrier, Kether Guerrero, Luan T. Tran, Mackenzie A. Michell-Robinson, Geneviève Legault, Bernard Brais, Michel Sylvain, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Isabelle Thiffault, Geneviève Bernard

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: leukodystrophy, hypomyelination, next generation sequencing (NGS), genetic diagnosis, medical genetics, pediatric neurology, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1148377/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/f1fdff3b504e41b18a02f8a168cfe29e

المؤلفون: Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100505- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423005058; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/284018338729483dad18fd58f3d3eeb1

المؤلفون: Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100618- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423006180; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/ba08653b7f53417185316a2bd408f427

المؤلفون: Qi Fu, Warren A. Cheung, Amber V. Majnik, Xingrao Ke, Tomi Pastinen, Robert H. Lane

المصدر: Nutrients; Volume 15; Issue 9; Pages: 2167

مصطلحات موضوعية: NAFLD, methylation, DNA, epigenetics, liver, development, maternal, early life stress, diet, perinatal

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Nutrition in Women; https://dx.doi.org/10.3390/nu15092167

الاتاحة: https://doi.org/10.3390/nu15092167

المؤلفون: Julia Macintosh MSc, Isabelle Thiffault PhD, Tomi Pastinen MD, PhD, László Sztriha MD, PhD, DSc, Geneviève Bernard MD, MSc, FRCP(c)

المصدر: Child Neurology Open, Vol 10 (2023)

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

Relation: https://doi.org/10.1177/2329048X231176673; https://doaj.org/toc/2329-048X; https://doaj.org/article/88eb7233ddc74d289f8e916e2142fa37

الاتاحة: https://doi.org/10.1177/2329048X231176673
https://doaj.org/article/88eb7233ddc74d289f8e916e2142fa37

المؤلفون: Mylarappa Ningappa, PhD, Xiaojian Shao, PhD, Chethan Ashokkumar, PhD, Qingyong Xu, PhD, Adriana Zeevi, PhD, Elin Grundberg, PhD, Tomi Pastinen, MD, PhD, Rakesh Sindhi, MD

المصدر: Transplantation Direct, Vol 8, Iss 11, p e1394 (2022)

مصطلحات موضوعية: Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://journals.lww.com/transplantationdirect/fulltext/10.1097/TXD.0000000000001394; https://doaj.org/toc/2373-8731

URL الوصول: https://doaj.org/article/0e66d86e61314cff85f7194906a7eacf

المؤلفون: Konner Winkley, Dithi Banerjee, Todd Bradley, Boryana Koseva, Warren A. Cheung, Rangaraj Selvarangan, Tomi Pastinen, Elin Grundberg

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/8ee541ee30ab45d29839bf58159db530