Search details
1.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33106617
2.
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Am J Hum Genet
; 94(2): 278-87, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24439110
3.
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Hum Genet
; 131(11): 1761-73, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22773132
4.
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Commun Biol
; 4(1): 666, 2021 06 02.
Article
in English
| MEDLINE | ID: mdl-34079053
5.
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hum Genet
; 127(5): 555-61, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20157829
6.
Author Correction: Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.
Commun Biol
; 4(1): 755, 2021 Jun 14.
Article
in English
| MEDLINE | ID: mdl-34127779
7.
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1.
Gene
; 520(2): 194-7, 2013 May 15.
Article
in English
| MEDLINE | ID: mdl-23473829
8.
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nat Genet
; 43(1): 20-2, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21131976
9.
Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy.
Am J Med Genet A
; 140(7): 764-8, 2006 Apr 01.
Article
in English
| MEDLINE | ID: mdl-16523518
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