Detalhe da pesquisa
1.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100095
2.
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
J Med Genet
; 52(12): 797-803, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26424145
3.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
4.
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Nat Genet
; 38(2): 191-6, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16415887
5.
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Hum Mutat
; 28(5): 523-4, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17397051
6.
Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates.
Front Physiol
; 7: 266, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27445855
7.
The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.
Genet Test Mol Biomarkers
; 16(5): 453-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22288896
8.
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Science
; 335(6071): 966-9, 2012 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-22282472
9.
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss.
Arch Dis Child
; 96(9): 798-803, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21586435
10.
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.
Nat Genet
; 40(6): 789-93, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18500342
11.
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.
Hum Genet
; 111(4-5): 456-61, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12384791