Detalhe da pesquisa
1.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33033404
2.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33473207
3.
Presentation and Investigation of Pediatric Bone and Joint Infections in the Pediatric Emergency Department.
Pediatr Emerg Care
; 35(10): 700-704, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29509649
4.
Financial Strain, Parental Smoking, and the Great Recession: An Analysis of the UK Millennium Cohort Study.
Nicotine Tob Res
; 19(12): 1521-1525, 2017 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27707885
5.
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Hum Mol Genet
; 21(8): 1706-24, 2012 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22199023
6.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38778080
7.
Mapping Two Decades of Paediatric Down Syndrome Research Literature.
Ulster Med J
; 92(2): 77-83, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37649911
8.
A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.
Genes (Basel)
; 13(7)2022 06 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35885887
9.
Increased household financial strain, the Great Recession and child health-findings from the UK Millennium Cohort Study.
BMJ Open
; 7(3): e015559, 2017 03 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28280000
10.
BIRTH RATE MAY INCREASE NINE MONTHS AFTER NATIONAL FOOTBALL SUCCESS.
Ulster Med J
; 88(1): 56-58, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31073251
11.
Phenotypic delineation of a 12q21 deletion syndrome.
Clin Dysmorphol
; 28(4): 198-201, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30985307
12.
Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.
Clin Dysmorphol
; 26(1): 50-57, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27295357
13.
Doctors must advocate for action on the high levels of child poverty.
BMJ
; 351: h3959, 2015 Jul 29.
Artigo
Inglês
| MEDLINE | ID: mdl-26224093
14.
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.
Neuromuscul Disord
; 20(7): 438-42, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20605452