受强制性开放获取政策约束的文章 - Ilona Krey了解详情
可在其他位置公开访问的文章：24 篇
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council, National …
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The landscape of epilepsy-related GATOR1 variants
S Baldassari, F Picard, NE Verbeek, M van Kempen, EH Brilstra, G Lesca, ...
Genetics in Medicine 21 (2), 398-408, 2019
强制性开放获取政策： US National Institutes of Health, National Institute of Health and Medical …
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ...
Brain 145 (9), 2991-3009, 2022
强制性开放获取政策： US National Institutes of Health, German Research Foundation, Federal …
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Current practice in diagnostic genetic testing of the epilepsies
I Krey, K Platzer, A Esterhuizen, SF Berkovic, I Helbig, MS Hildebrand, ...
Epileptic Disorders 24 (5), 765-786, 2022
强制性开放获取政策： US National Institutes of Health, Research Foundation (Flanders), German …
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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
KL Helbig, UBS Hedrich, DN Shinde, I Krey, AC Teichmann, J Hentschel, ...
Annals of neurology 80 (4), 2016
强制性开放获取政策： German Research Foundation, Academy of Finland
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Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs
TA Benke, K Park, I Krey, CR Camp, R Song, AJ Ramsey, H Yuan, ...
Neuropharmacology 199, 108805, 2021
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research …
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
强制性开放获取政策： US National Institutes of Health, UK Medical Research Council
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The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals
P Zacher, T Mayer, F Brandhoff, T Bartolomaeus, D Le Duc, M Finzel, ...
Genetics in Medicine 23 (8), 1492-1497, 2021
强制性开放获取政策： German Research Foundation
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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
PK Ahring, VWY Liao, E Gardella, KM Johannesen, I Krey, KK Selmer, ...
Brain 145 (4), 1299-1309, 2022
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
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Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy
ER Wengert, CE Tronhjem, JL Wagnon, KM Johannesen, H Petit, I Krey, ...
Epilepsia 60 (11), 2277-2285, 2019
强制性开放获取政策： US National Institutes of Health
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Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations
DM Connaughton, R Dai, DJ Owen, J Marquez, N Mann, ...
The American Journal of Human Genetics 107 (4), 727-742, 2020
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research …
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Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons
CR Camp, A Vlachos, C Klöckner, I Krey, TG Banke, N Shariatzadeh, ...
Communications Biology 6 (1), 952, 2023
强制性开放获取政策： US National Institutes of Health, German Research Foundation
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ...
Genetics in Medicine 25 (1), 76-89, 2023
强制性开放获取政策： US National Institutes of Health, Cancer Research UK, UK Medical Research …
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Distinct gene-set burden patterns underlie common generalized and focal epilepsies
M Koko, R Krause, T Sander, DR Bobbili, M Nothnagel, P May, H Lerche, ...
EBioMedicine 72, 2021
强制性开放获取政策： US National Institutes of Health, German Research Foundation, UK Medical …
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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
H Oppermann, E Marcos-Grañeda, LA Weiss, CA Gurnett, AM Jelsig, ...
European Journal of Human Genetics 31 (11), 1251-1260, 2023
强制性开放获取政策： US National Institutes of Health, Autism Speaks Inc, USA, Government of …
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Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations
R Stevelink, JJ Luykx, BD Lin, C Leu, D Lal, AW Smith, D Schijven, ...
Epilepsia 62 (7), 1518-1527, 2021
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
S Neuser, I Krey, A Schwan, R Abou Jamra, T Bartolomaeus, J Döring, ...
European Journal of Human Genetics 30 (1), 101-110, 2022
强制性开放获取政策： German Research Foundation
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
B Rinaldi, A Bayat, LG Zachariassen, JH Sun, YH Ge, D Zhao, K Bonde, ...
Brain 147 (5), 1837-1855, 2024
强制性开放获取政策： Danish Council for Independent Research, Wellcome Trust
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
DE Layo-Carris, EE Lubin, AK Sangree, KJ Clark, EL Durham, ...
European Journal of Human Genetics 32 (8), 928-937, 2024
强制性开放获取政策： Chan Zuckerberg Initiative
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Loss of Grin2a Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons: A Possible Mechanism for Transient Seizure …
CR Camp, A Vlachos, C Klöckner, I Krey, TG Banke, N Shariatzadeh, ...
bioRxiv, 2021.12. 29.474447, 2021
强制性开放获取政策： US National Institutes of Health, German Research Foundation
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