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1.
Pathogenicity and selective constraint on variation near splice sites.
Genome Res
; 29(2): 159-170, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30587507
2.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Am J Med Genet A
; 182(7): 1637-1654, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32319732
3.
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
PLoS Genet
; 13(8): e1006957, 2017 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-28859103
4.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29097605
5.
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Am J Hum Genet
; 93(6): 1135-42, 2013 Dec 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-24290375
6.
Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
Ophthalmic Genet
; 43(6): 809-816, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36695497
7.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology
; 99(14): e1511-e1526, 2022 10 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36192182
8.
Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.
Biochem J
; 423(1): 31-9, 2009 Sep 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-19580544
9.
Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.
BMJ Case Rep
; 20142014 Feb 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-24495977
10.
MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours.
Clin Endocrinol (Oxf)
; 68(4): 666-7, 2008 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-17877758
11.
Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.
Exp Neurol
; 246: 14-25, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22285450
12.
Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men.
Sci Rep
; 3: 2059, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23792811
13.
The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine.
PLoS One
; 5(10): e13363, 2010 Oct 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-20967219
14.
Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology.
Clin Dysmorphol
; 23(2): 74-75, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24584103
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