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Items: 4


Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.

Al Yassin A, D'Arco F, Morín M, Pagarkar W, Harrop-Griffiths K, Shaida A, Fernández E, Cullup T, De-Souza B, Moreno-Pelayo MA, Bitner-Glindzicz M.

Genes (Basel). 2019 Jul 12;10(7). pii: E529. doi: 10.3390/genes10070529.


A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Al-Yassin A, Calder AD, Harrison M, Lester T, Lord H, Oldridge M, Watkins S, Keen R, Wakeling EL.

Eur J Hum Genet. 2018 Sep;26(9):1288-1293. doi: 10.1038/s41431-018-0166-7. Epub 2018 Jun 11.


How can general paediatric training be optimised in highly specialised tertiary settings? Twelve tips from an interview-based study of trainees.

Al-Yassin A, Long A, Sharma S, May J.

BMJ Paediatr Open. 2017 Sep 4;1(1):e000101. doi: 10.1136/bmjpo-2017-000101. eCollection 2017.


Early-onset bilateral cerebral arteriopathies: Cohort study of phenotype and disease course.

Al-Yassin A, Saunders DE, Mackay MT, Ganesan V.

Neurology. 2015 Sep 29;85(13):1146-53. doi: 10.1212/WNL.0000000000001969. Epub 2015 Aug 28.


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