受强制性开放获取政策约束的文章 - Stefan Barakat了解详情
无法在其他位置公开访问的文章：2 篇
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
ME Amato, S Balsells, L Martorell, AA San Martín, K Ansell, ML Børresen, ...
European Journal of Paediatric Neurology 53, 63-72, 2024
强制性开放获取政策： Netherlands Organisation for Scientific Research, Netherlands Organisation …
Generation of knockout alleles by RFLP based BAC targeting of polymorphic embryonic stem cells
TS Barakat, J Gribnau
Bacterial Artificial Chromosomes, 143-180, 2015
强制性开放获取政策： European Commission
可在其他位置公开访问的文章：67 篇
A murine ESC-like state facilitates transgenesis and homologous recombination in human pluripotent stem cells
C Buecker, HH Chen, JM Polo, L Daheron, L Bu, TS Barakat, P Okwieka, ...
Cell stem cell 6 (6), 535-546, 2010
强制性开放获取政策： US National Institutes of Health
Functional dissection of the enhancer repertoire in human embryonic stem cells
TS Barakat, F Halbritter, M Zhang, AF Rendeiro, E Perenthaler, C Bock, ...
Cell stem cell 23 (2), 276-288. e8, 2018
强制性开放获取政策： German Research Foundation, UK Medical Research Council, Wellcome Trust …
The why of YY1: mechanisms of transcriptional regulation by Yin Yang 1
TCJ Verheul, L van Hijfte, E Perenthaler, TS Barakat
Frontiers in cell and developmental biology 8, 592164, 2020
强制性开放获取政策： Netherlands Organisation for Scientific Research, Netherlands Organisation …
Dynamics of gene silencing during X inactivation using allele-specific RNA-seq
H Marks, HHD Kerstens, TS Barakat, E Splinter, RAM Dirks, G van Mierlo, ...
Genome biology 16, 1-20, 2015
强制性开放获取政策： Netherlands Organisation for Scientific Research, UK Medical Research …
International consensus recommendations on the diagnostic work-up for malformations of cortical development
R Oegema, TS Barakat, M Wilke, K Stouffs, D Amrom, E Aronica, ...
Nature Reviews Neurology 16 (11), 618-635, 2020
强制性开放获取政策： European Commission
Beyond the exome: the non-coding genome and enhancers in neurodevelopmental disorders and malformations of cortical development
E Perenthaler, S Yousefi, E Niggl, TS Barakat
Frontiers in cellular neuroscience 13, 352, 2019
强制性开放获取政策： Netherlands Organisation for Scientific Research, European Commission …
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ...
The American Journal of Human Genetics 108 (3), 502-516, 2021
强制性开放获取政策： US National Institutes of Health, Genome Canada, Netherlands Organisation …
Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
A Jolly, Y Bayram, S Turan, Z Aycan, T Tos, ZY Abali, B Hacihamdioglu, ...
The Journal of Clinical Endocrinology & Metabolism 104 (8), 3049-3067, 2019
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute …
Defects in KCNJ16 cause a novel tubulopathy with hypokalemia, salt wasting, disturbed acid-base homeostasis, and sensorineural deafness
KP Schlingmann, A Renigunta, EJ Hoorn, AL Forst, V Renigunta, ...
Journal of the American Society of Nephrology 32 (6), 1498-1512, 2021
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health, US …
The pluripotency factor-bound intron 1 of Xist is dispensable for X chromosome inactivation and reactivation in vitro and in vivo
A Minkovsky, TS Barakat, N Sellami, MH Chin, N Gunhanlar, J Gribnau, ...
Cell reports 3 (3), 905-918, 2013
强制性开放获取政策： US National Institutes of Health
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ...
Acta neuropathologica 139, 415-442, 2020
强制性开放获取政策： US National Institutes of Health, Netherlands Organisation for Scientific …
Lessons learned from 40 novel PIGA patients and a review of the literature
A Bayat, A Knaus, M Pendziwiat, A Afenjar, TS Barakat, F Bosch, ...
Epilepsia 61 (6), 1142-1155, 2020
强制性开放获取政策： Research Foundation (Flanders), German Research Foundation, Danish National …
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
H Hengel, C Bosso-Lefèvre, G Grady, E Szenker-Ravi, H Li, S Pierce, ...
Nature communications 11 (1), 595, 2020
强制性开放获取政策： Research Foundation (Flanders), Canadian Institutes of Health Research …
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
LE Sanderson, K Lanko, M Alsagob, R Almass, N Al-Ahmadi, M Najafi, ...
Brain 144 (3), 769-780, 2021
强制性开放获取政策： German Research Foundation, Netherlands Organisation for Scientific Research …
BICRA, a SWI/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms
S Barish, TS Barakat, BC Michel, N Mashtalir, JB Phillips, AM Valencia, ...
The American Journal of Human Genetics 107 (6), 1096-1112, 2020
强制性开放获取政策： US National Institutes of Health, Netherlands Organisation for Scientific …
REX1 is the critical target of RNF12 in imprinted X chromosome inactivation in mice
C Gontan, H Mira-Bontenbal, A Magaraki, C Dupont, TS Barakat, ...
Nature communications 9 (1), 4752, 2018
强制性开放获取政策： Netherlands Organisation for Scientific Research
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ...
European Journal of Human Genetics 28 (10), 1422-1431, 2020
强制性开放获取政策： US National Institutes of Health, 国家自然科学基金委员会, Netherlands …
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
PC Marcogliese, SL Deal, J Andrews, JM Harnish, VH Bhavana, ...
Cell reports 38 (11), 2022
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research …
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