Detalhe da pesquisa
1.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(6): 1095-1114, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991472
2.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(12): 2386-2388, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861177
3.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Am J Hum Genet
; 88(6): 767-777, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21664999
4.
Digital interventions for genomics and genetics education, empowerment, and service engagement: A systematic review.
J Community Genet
; 14(3): 227-240, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198378
5.
Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality.
J Community Genet
; 13(2): 171-182, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182377
6.
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
Am J Med Genet A
; 155A(12): 2910-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002932
7.
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.
Eur J Hum Genet
; 29(9): 1377-1383, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603162
8.
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Eur J Med Genet
; 63(9): 103974, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32534991
9.
The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated.
Heart
; 98(8): 631-6, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505462
10.
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.
Front Endocrinol (Lausanne)
; 2: 8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22654791