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1.
GREB1 regulates PI3K/Akt signaling to control hormone-sensitive breast cancer proliferation.
Carcinogenesis
; 41(12): 1660-1670, 2020 12 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-32894276
2.
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(4): 377-386, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28251352
3.
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.
Am J Med Genet A
; 173(5): 1257-1263, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28322503
4.
Analysis of MTHFR and MTRR Gene Polymorphisms in Iranian Ventricular Septal Defect Subjects.
Int J Mol Sci
; 14(2): 2739-52, 2013 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-23358257
5.
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Hum Genet
; 136(8): 1009-1011, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28660352
6.
Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.
Am J Med Genet A
; 170A(2): 540-543, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26437881
7.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 12, 2019 02 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-30819258
8.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Genome Med
; 11(1): 16, 2019 03 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-30909959
9.
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Eur J Med Genet
; 60(4): 212-216, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28126652
10.
A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.
Meta Gene
; 9: 124-7, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27331017
11.
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
J Mol Neurosci
; 57(3): 393-9, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26055038
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