Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.
about
Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disordersIdentification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.Monoamine neurotransmitter disorders--clinical advances and future perspectives.
P2860
Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Clinical improvement of the ag ...... PA in the cerebrospinal fluid.
@en
Clinical improvement of the ag ...... PA in the cerebrospinal fluid.
@nl
type
label
Clinical improvement of the ag ...... PA in the cerebrospinal fluid.
@en
Clinical improvement of the ag ...... PA in the cerebrospinal fluid.
@nl
prefLabel
Clinical improvement of the ag ...... PA in the cerebrospinal fluid.
@en
Clinical improvement of the ag ...... PA in the cerebrospinal fluid.
@nl
P2093
P2860
P50
P356
P1476
Clinical improvement of the ag ...... OPA in the cerebrospinal fluid
@en
P2093
Ewa Bocian
Ewa Obersztyn
Hanna Mierzewska
Jolanta Tryfon
Katarzyna Derwińska
Katarzyna Kuśmierska
Paweł Stankiewicz
Tadeusz Mazurczak
Zhilian Xia
P2860
P304
P356
10.1002/AJMG.B.32020
P577
2012-01-05T00:00:00Z