Detalles de la búsqueda
1.
The long and short of the S-locus in Turnera (Passifloraceae).
New Phytol
; 224(3): 1316-1329, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31144315
2.
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
Hum Genet
; 135(7): 757-71, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27106595
3.
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
BMC Neurol
; 16: 132, 2016 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27506666
4.
A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.
Am J Med Genet A
; 167A(12): 3011-8, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26333423
5.
Positional cloning of the s haplotype determining the floral and incompatibility phenotype of the long-styled morph of distylous Turnera subulata.
Mol Genet Genomics
; 285(2): 101-11, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21113621
6.
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.
J Clin Med
; 9(1)2020 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-31963867
7.
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Genes (Basel)
; 11(11)2020 11 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33187236
8.
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.
Mol Cytogenet
; 9: 24, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26997977
9.
Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.
Gene
; 575(1): 42-7, 2016 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26297997
10.
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
Genes (Basel)
; 7(11)2016 Nov 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27834868
11.
Changes in nucleosome position at transcriptional start sites of specific genes in Zea mays mediator of paramutation1 mutants.
Epigenetics
; 8(4): 398-408, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23538550
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