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48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community.
Sheth J, Sheth H, Sheth F, Thelma BK, Joshi M, Kaur I, Joshi C. Sheth J, et al. Among authors: sheth f. Lancet Reg Health Southeast Asia. 2024 Feb 23;23:100373. doi: 10.1016/j.lansea.2024.100373. eCollection 2024 Apr. Lancet Reg Health Southeast Asia. 2024. PMID: 38434479 Free PMC article. No abstract available.
Characterization of sSMC by FISH and molecular techniques.
Sheth F, Andrieux J, Ewers E, Kosyakova N, Weise A, Sheth H, Romana SP, LeLorc'h M, Delobel B, Theisen O, Liehr T, Nampoothiri S, Sheth J. Sheth F, et al. Among authors: sheth j, sheth h. Eur J Med Genet. 2011 May-Jun;54(3):247-55. doi: 10.1016/j.ejmg.2011.01.011. Epub 2011 Mar 3. Eur J Med Genet. 2011. PMID: 21316495
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J. Vanlerberghe C, et al. Among authors: sheth f. Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596525
Pure interstitial dup(6)(q22.31q22.31) - a case report.
Sheth F, Trivedi S, Andrieux J, Blouin JL, Sheth J. Sheth F, et al. Among authors: sheth j. Ital J Pediatr. 2015 Jan 31;41:5. doi: 10.1186/s13052-015-0113-y. Ital J Pediatr. 2015. PMID: 25637059 Free PMC article.
88 results