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HACE1 deficiency causes an autosomal recessive neurodevelop..:

Hollstein, R ; Parry, D.A ; Nalbach, L...
Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344. , 2015

Link: https://scholarbank.nus.edu.sg/handle/10635/180093

RT Journal
T1 <Title>HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftnunivsingapore:oai:scholarbank.nus.edu.sg:10635_180093&Exemplar=1&LAN=DE
				
A1 Hollstein, R
A1 Parry, D.A
A1 Nalbach, L
A1 Logan, C.V
A1 Strom, T.M
A1 Hartill, V.L
A1 Carr, I.M
A1 Korenke, G.C
A1 Uppal, S
A1 Ahmed, M
A1 Wieland, T
A1 Markham, A.F
A1 Bennett, C.P
A1 Gillessen-Kaesbach, G
A1 Sheridan, E.G
A1 Kaiser, F.J
A1 Bonthron, D.T
PB BMJ Publishing Group
YR 2015
K1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase
K1 ubiquitin protein ligase E3
K1 unclassified drug
K1 HACE1 protein
K1 human
K1 ubiquitin protein ligase
K1 adolescent
K1 adult
K1 apraxia
K1 Article
K1 autosomal recessive disorder
K1 autosomal recessive inheritance
K1 chest infection
K1 child
K1 clinical article
K1 cognitive defect
K1 consanguinity
K1 divergent strabismus
K1 dystonic disorder
K1 enzyme deficiency
K1 epilepsy
K1 exome
K1 female
K1 gait disorder
K1 gene sequence
K1 genetic variability
K1 immobility
K1 intellectual impairment
K1 lordosis
K1 loss of function mutation
K1 macrocephaly
K1 male
K1 molecular pathology
K1 motor dysfunction
K1 muscle hypotonia
K1 myopia
K1 nonsense mutation
K1 obesity
K1 perception deafness
K1 preschool child
K1 priority journal
K1 retina dystrophy
K1 spasticity
K1 virus encephalitis
K1 cell culture
K1 deficiency
K1 dna mutational analysis
K1 genetics
K1 infant
JF Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344
LK http://dx.doi.org/https://scholarbank.nus.edu.sg/handle/10635/180093
DO https://scholarbank.nus.edu.sg/handle/10635/180093
SF ELIB - SuUB Bremen

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