Detalhe da pesquisa
1.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
2.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Am J Hum Genet
; 101(3): 466-477, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886345
3.
Uptake of testing for BRCA1/2 mutations in South East Scotland.
Eur J Hum Genet
; 16(8): 906-12, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285832
4.
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
em Inglês
| MEDLINE | ID: mdl-18246448
5.
Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.
Eur J Med Genet
; 49(2): 195-9, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16530716
6.
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Mol Genet Genomic Med
; 4(4): 465-74, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27441201
7.
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Diabetes
; 52(9): 2433-40, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12941786
8.
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Am J Med Genet A
; 152A(5): 1310-3, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20425842
9.
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Eur J Hum Genet
; 20(4): 381-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22126750