المؤلفون: Natarajan, Karthick, Eisfeldt, Jesper, Hammond, Maria, Laffita-Mesa, Jose Miguel, Patra, Kalicharan, Khoshnood, Behzad, Öijerstedt, Linn, Graff, Caroline

مصطلحات موضوعية: Progranulin, Haploinsufficiency, Human genetic disorders, Neurodegenerative disorders, Nuclei multiplexing, CITE-Seq, Frontotemporal dementia, Reduced penetrance, Neurosciences, Neurovetenskaper, Medical Genetics, Medicinsk genetik

وصف الملف: application/pdf

العلاقة: Acta neuropathologica communications, 2021, 9:1; orcid:0000-0001-5335-875X; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-455800Test; PMID 34344473; ISI:000683466000002

الإتاحة: https://doi.org/10.1186/s40478-021-01234-2Test
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-455800Test

المؤلفون: Bieder, Andrea, Einarsdottir, Elisabet, Matsson, Hans, Nilsson, Harriet E., Eisfeldt, Jesper, Dragomir, Anca, Paucar, Martin, Granberg, Tobias, Li, Tie-Qiang, Lindstrand, Anna, Kere, Juha, Tapia-Paez, Isabel

مصطلحات موضوعية: Developmental dyslexia, Situs inversus, Primary ciliary dyskinesia, L-R asymmetry defects, Whole genome sequencing, SNVs, Brain imaging, Medical Genetics, Medicinsk genetik

وصف الملف: application/pdf

العلاقة: BMC Medical Genetics, 2020, 21:1; orcid:0000-0003-2777-8114; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-413235Test; PMID 32357925; ISI:000531295000002

الإتاحة: https://doi.org/10.1186/s12881-020-01020-2Test
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-413235Test

المؤلفون: Bieder, Andrea, Einarsdottir, Elisabet, Matsson, Hans, Nilsson, Harriet E., Eisfeldt, Jesper, Dragomir, Anca, Paucar, Martin, Granberg, Tobias, Li, Tie-Qiang, Lindstrand, Anna, Kere, Juha, Tapia-Paez, Isabel

المساهمون: Biosciences, Päivi Marjaana Saavalainen / Principal Investigator, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Research Programs Unit, HUS Helsinki and Uusimaa Hospital District

مصطلحات موضوعية: Developmental dyslexia, Situs inversus, Primary ciliary dyskinesia, L-R asymmetry defects, Whole genome sequencing, SNVs, Brain imaging, DCDC2 MUTATIONS CAUSE, CANDIDATE GENES, NEUROBIOLOGY, HANDEDNESS, GENETICS, DYX1C1, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Bieder , A , Einarsdottir , E , Matsson , H , Nilsson , H E , Eisfeldt , J , Dragomir , A , Paucar , M , Granberg , T , Li , T-Q , Lindstrand , A , Kere , J & Tapia-Paez , I 2020 , ' Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia : a case report ' , BMC Medical Genetics , vol. 21 , no. 1 , 87 . https://doi.org/10.1186/s12881-020-01020-2Test; RIS: urn:16BEC080364246AF6A77631C1D4EC720; RIS: Bieder2020; 6d5703a1-5192-4edc-90fb-905d4c270026; http://hdl.handle.net/10138/316907Test; 000531295000002

الإتاحة: http://hdl.handle.net/10138/316907Test

المؤلفون: Magnusson, Måns, Eisfeldt, Jesper, Nilsson, Daniel, Rosenbaum, Adam, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna, Stranneheim, Henrik

المصدر: BMC Bioinformatics

مصطلحات موضوعية: Software, envir, info

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329469Test/

الإتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329469Test/