Lynch SA - Search Results

1

Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?

Quinn S, Kavanagh K, McArdle L, Betts D, Lynch SA. Quinn S, et al. Among authors: lynch sa. Clin Dysmorphol. 2023 Jan 1;32(1):39-42. doi: 10.1097/MCD.0000000000000440. Epub 2022 Nov 23. Clin Dysmorphol. 2023. PMID: 36503924 No abstract available.

2

The cost of rejection: an internal audit of the clinical genetics service active triage pathway at CHI Crumlin, Ireland.

Coleman J, Kavanagh K, Lynch SA, Bradley L. Coleman J, et al. Among authors: lynch sa. Ir J Med Sci. 2023 Oct;192(5):2047-2050. doi: 10.1007/s11845-023-03274-0. Epub 2023 Jan 9. Ir J Med Sci. 2023. PMID: 36622627

3

High prevalence of Cohen syndrome among Irish travellers.

Murphy AM, Flanagan O, Dunne K, Lynch SA. Murphy AM, et al. Among authors: lynch sa. Clin Dysmorphol. 2007 Oct;16(4):257-9. doi: 10.1097/MCD.0b013e3282742530. Clin Dysmorphol. 2007. PMID: 17786118 No abstract available.

4

A case of persistent pulmonary hypertension in a newborn with Costello syndrome.

O'shea J, Lynch SA, Macken S. O'shea J, et al. Among authors: lynch sa. Clin Dysmorphol. 2008 Oct;17(4):287-8. doi: 10.1097/MCD.0b013e3283079e68. Clin Dysmorphol. 2008. PMID: 18978662 No abstract available.

5

Duplication of referral, a tsunami of paper: how much does it cost the Irish health services?

Walsh N, Malone L, Lynch SA. Walsh N, et al. Among authors: lynch sa. Ir J Med Sci. 2022 Dec;191(6):2439-2444. doi: 10.1007/s11845-021-02866-y. Epub 2022 Jan 10. Ir J Med Sci. 2022. PMID: 35001335 Free PMC article.

6

Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Ward AJ, Lambert DM, Butterly D, O'Byrne JJ, McGrath V, Lynch SA. Ward AJ, et al. Among authors: lynch sa. J Community Genet. 2023 Dec;14(6):583-592. doi: 10.1007/s12687-023-00664-w. Epub 2023 Aug 26. J Community Genet. 2023. PMID: 37632685 Free PMC article.

7

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

Forman EB, Lynch SA, Knerr I, Monavari A, Hughes J, Boruah R, Green A, Crushell E. Forman EB, et al. Among authors: lynch sa. Eur J Pediatr. 2023 Jan;182(1):31-40. doi: 10.1007/s00431-022-04697-0. Epub 2022 Nov 14. Eur J Pediatr. 2023. PMID: 36374302 Review.

8

Use of tissue samples in diagnosing diploid triploid mosaicism.

Mahon O, Fox Á, Lynch SA, Cunningham K. Mahon O, et al. Among authors: lynch sa. BMJ Case Rep. 2022 Dec 8;15(12):e252779. doi: 10.1136/bcr-2022-252779. BMJ Case Rep. 2022. PMID: 36593622

9

The Role of the European Society of Human Genetics in Delivering Genomic Education.

Tobias ES, Avram E, Calapod P, Cordier C, den Dunnen JT, Ding C, Dolzan V, Houge SD, Lynch SA, O'Byrne J, Patsalis P, Prokopenko I, Soares CA, Tobias AP, Newman WG. Tobias ES, et al. Among authors: lynch sa. Front Genet. 2021 Sep 3;12:693952. doi: 10.3389/fgene.2021.693952. eCollection 2021. Front Genet. 2021. PMID: 34539735 Free PMC article.

10

What price a diagnosis?

Lynch SA. Lynch SA. Dev Med Child Neurol. 2011 Nov;53(11):971. doi: 10.1111/j.1469-8749.2011.04085.x. Epub 2011 Aug 16. Dev Med Child Neurol. 2011. PMID: 21848875 Free article. No abstract available.

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