Detalhe da pesquisa
1.
Preparing tomorrow's doctors for the genomics era: A nationwide survey of UK medical students.
Future Healthc J
; 11(2): 100133, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766626
2.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405817
3.
From Beyond the Grave: Use of Medical Information from the Deceased to Guide Care of Living Relatives.
Curr Genet Med Rep
; 8(4): 147-153, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33251050
4.
What is array CGH?
Arch Dis Child Educ Pract Ed
; 98(4): 134-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23723412
5.
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.
Clin Dysmorphol
; 26(1): 13-17, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27576021
6.
Inherited 2q23.1 microdeletions involving the MBD5 locus.
Mol Genet Genomic Med
; 5(5): 608-613, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944244
7.
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Eur J Hum Genet
; 25(6): 669-679, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28327575
8.
When Rothmund-Thomson syndrome is not: two new cases of Clericuzio-type poikiloderma with neutropenia.
Clin Dysmorphol
; 30(1): 50-53, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897901
9.
Liver abscess within the first week of life in a very low birthweight infant.
BMJ Case Rep
; 20092009.
Artigo
em Inglês
| MEDLINE | ID: mdl-21886660