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Page 1
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586.
JCI Insight. 2022.
PMID: 35132964
Free PMC article.
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.
Al Yassin A, et al.
Genes (Basel). 2019 Jul 12;10(7):529. doi: 10.3390/genes10070529.
Genes (Basel). 2019.
PMID: 31336982
Free PMC article.
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Early-onset bilateral cerebral arteriopathies: Cohort study of phenotype and disease course.
Al-Yassin A, Saunders DE, Mackay MT, Ganesan V.
Al-Yassin A, et al.
Neurology. 2015 Sep 29;85(13):1146-53. doi: 10.1212/WNL.0000000000001969. Epub 2015 Aug 28.
Neurology. 2015.
PMID: 26320201
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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.
Al-Yassin A, et al.
Eur J Hum Genet. 2018 Sep;26(9):1288-1293. doi: 10.1038/s41431-018-0166-7. Epub 2018 Jun 11.
Eur J Hum Genet. 2018.
PMID: 29891876
Free PMC article.
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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.
Al-Yassin A, et al.
BMJ Paediatr Open. 2017 Sep 4;1(1):e000101. doi: 10.1136/bmjpo-2017-000101. eCollection 2017.
BMJ Paediatr Open. 2017.
PMID: 29637130
Free PMC article.
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