Detalhe da pesquisa
1.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Am J Hum Genet
; 100(4): 650-658, 2017 Apr 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28343630
2.
Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?
Am J Med Genet A
; 173(6): 1593-1600, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28440577
3.
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
Hum Mutat
; 35(11): 1295-300, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25196122
4.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
HGG Adv
; 4(1): 100157, 2023 01 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36408368
5.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-30819258
6.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-30909959
7.
Uptake of testing for BRCA1/2 mutations in South East Scotland.
Eur J Hum Genet
; 16(8): 906-12, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18285832
8.
Inequality of use of cancer genetics services by members of breast, ovarian and colorectal cancer families in South East Scotland.
Fam Cancer
; 7(3): 259-64, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18246448
9.
A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma.
Endocrinol Diabetes Metab Case Rep
; 20182018.
Artigo
Inglês
| MEDLINE | ID: mdl-30087776
10.
Three's a crowd: 10q triplication secondary to a paternal 10q duplication.
Clin Dysmorphol
; 23(4): 143-6, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25036987
11.
Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.
Am J Med Genet A
; 140(23): 2625-30, 2006 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16906569