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1 . Academic Journal
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
저자
by
Lecoquierre, François
;
Punt, A. Mattijs
;
Ebstein, Frédéric
;
Wallaard, Ilse
;
Verhagen, Rob
, et al.
소스
In
Genetics in Medicine
June 2024 26(6)
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7 . Academic Journal
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
저자
by
Ambrose, J.C.
;
Arumugam, P.
;
Bevers, R.
;
Bleda, M.
;
Boardman-Pretty, F.
, et al.
소스
In
The American Journal of Human Genetics
3 August 2023 110(8):1414-1435
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7 . Academic Journal
Adult Camk2a gene reinstatement restores the learning and plasticity deficits of Camk2a knockout mice
저자
by
Rigter, Pomme M.F.
;
Wallaard, Ilse
;
Aghadavoud Jolfaei, Mehrnoush
;
Kingma, Jenina
;
Post, Laura
, et al.
소스
In
iScience
18 November 2022 25(11)
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7 . Academic Journal
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
저자
by
Niggl, Eva
;
Bouman, Arjan
;
Briere, Lauren C.
;
Hoogenboezem, Remco M.
;
Wallaard, Ilse
, et al.
소스
American Journal of Human Genetics
. Aug2023, Vol. 110 Issue 8, p1414-1435. 22p.
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7 . Academic Journal
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
저자
by
Malik, Madiha Amin
;
Saqib, Muhammad Arif Nadeem
;
Mientjes, Edwin
;
Acharya, Anushree
;
Alam, Muhammad Rizwan
, et al.
소스
European Journal of Human Genetics
. 31(12):1447-1454
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7 . Periodical
A loss of function variant in AGPAT3underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
저자
by
Malik, Madiha Amin
;
Saqib, Muhammad Arif Nadeem
;
Mientjes, Edwin
;
Acharya, Anushree
;
Alam, Muhammad Rizwan
, et al.
소스
European Journal of Human Genetics: EJHG; December 2023, Vol. 31 Issue: 12 p1447-1454, 8p
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7 . Academic Journal
Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome.
저자
by
Tanas, Joseph K.
;
Kerr, Devante D.
;
Wang, Li
;
Rai, Anika
;
Wallaard, Ilse
, et al.
소스
Translational Psychiatry; 10/3/2022, Vol. 12 Issue 1, p1-9, 9p
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7 . Academic Journal
Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model.
저자
by
Koene, Linda M. C.
;
Grondelle, Saskia E.
;
Proietti Onori, Martina
;
Wallaard, Ilse
;
Kooijman, Nathalie H. R. M.
, et al.
소스
Annals of Clinical & Translational Neurology
. Jul2019, Vol. 6 Issue 7, p1273-1291. 19p.
Open Access (Wiley)
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7 . Academic Journal
Adult Ube3a Gene Reinstatement Restores the Electrophysiological Deficits of Prefrontal Cortex Layer 5 Neurons in a Mouse Model of Angelman Syndrome.
저자
by
Rotaru, Diana C.
;
van Woerden, Geeske M.
;
Wallaard, Ilse
;
Elgersma, Ype
.
소스
Journal of Neuroscience
. 9/12/2018, Vol. 38 Issue 37, p8011-8030. 20p.
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6 . Academic Journal
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants
저자
by
Sonzogni, Monica
;
Wallaard, Ilse
;
Santos, Sara Silva
;
Kingma, Jenina
;
du Mee, Dorine
, et al.
소스
MOLECULAR AUTISM
; SEP 14 2018, 9 p47 19p.
Open Access (BioMed Central)
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