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1.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes Dev
; 34(21-22): 1520-1533, 2020 11 01.
Article
in English
| MEDLINE | ID: mdl-33060134
2.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33033404
3.
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.
Eur J Hum Genet
; 32(6): 731-735, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38627541
4.
Philip Greene: 'in order to be a good dentist you must be a good periodontist'. Interview by Ruth Doherty.
Br Dent J
; 215(4): 197-9, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23969678
5.
Colorimetric detection of uranium(VI) on building surfaces after enrichment by solid phase extraction.
Talanta
; 66(4): 961-6, 2005 May 15.
Article
in English
| MEDLINE | ID: mdl-18970078
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