PubMed for id: 347616

Year	Number of Results
1980	1
1983	1
1984	1
1985	1
1986	3
1987	1
1988	4
1989	1
1990	1
1991	5
1992	1
1993	5
1994	1
1995	2
1997	3
1999	4
2001	5
2002	1
2003	1
2004	1
2005	3
2006	2
2007	1
2009	3
2010	2
2011	3
2012	2
2013	4
2014	1
2015	2
2016	3
2017	3
2018	5
2019	7
2020	5
2021	5
2022	3
2023	3
2024	0

1

The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome.

van der Meulen JC, Hauben DJ, Vaandrager JM, Birgenhager-Frenkel DH. van der Meulen JC, et al. Plast Reconstr Surg. 1984 Nov;74(5):687-93. doi: 10.1097/00006534-198411000-00018. Plast Reconstr Surg. 1984. PMID: 6387737

2

New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.

Seaver LH, Cassidy SB. Seaver LH, et al. Am J Med Genet. 1991 Dec 15;41(4):405-9. doi: 10.1002/ajmg.1320410404. Am J Med Genet. 1991. PMID: 1776627

3

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population.

Yang K, Fu LM, Chu XY, Zhang J, Chen WQ, Yan YS, Wang YP, Zhang DL, Yin CH, Guo Q. Yang K, et al. Mol Genet Genomic Med. 2023 Jul;11(7):e2186. doi: 10.1002/mgg3.2186. Epub 2023 Apr 30. Mol Genet Genomic Med. 2023. PMID: 37120754 Free PMC article.

4

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

Ryu JH, Kim HY, Ko JM, Kim MJ, Seong MW, Choi BY, Chae JH. Ryu JH, et al. Eur J Med Genet. 2022 May;65(5):104478. doi: 10.1016/j.ejmg.2022.104478. Epub 2022 Apr 5. Eur J Med Genet. 2022. PMID: 35395430

5

First case report of Penttinen syndrome from India.

Aggarwal B, Correa ARE, Gupta N, Jana M, Kabra M. Aggarwal B, et al. Am J Med Genet A. 2022 Feb;188(2):683-687. doi: 10.1002/ajmg.a.62558. Epub 2021 Nov 19. Am J Med Genet A. 2022. PMID: 34799960

6

Mild phenotype in two siblings with a missense GHR variant.

Sarıkaya Özdemir B, Çetinkaya S, Güleray Lafcı N, Şakar M, Karacan Küçükali G, Elmaoğullari S, Savaş Erdeve Ş. Sarıkaya Özdemir B, et al. J Pediatr Endocrinol Metab. 2021 Jul 1;34(10):1349-1354. doi: 10.1515/jpem-2021-0044. Print 2021 Oct 26. J Pediatr Endocrinol Metab. 2021. PMID: 34218547

7

De novo TCOF1 mutation in Treacher Collins syndrome.

Liu J, Dong J, Li P, Duan W. Liu J, et al. Int J Pediatr Otorhinolaryngol. 2021 Aug;147:110765. doi: 10.1016/j.ijporl.2021.110765. Epub 2021 May 11. Int J Pediatr Otorhinolaryngol. 2021. PMID: 34058530

8

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother.

Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Wu FT, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2021 Jan;60(1):165-168. doi: 10.1016/j.tjog.2020.11.026. Taiwan J Obstet Gynecol. 2021. PMID: 33494995 Free article.

9

Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa).

Mubungu G, Lukute G, Makay P, Songo C, Lukusa P, Devriendt K, Lumaka A. Mubungu G, et al. Am J Med Genet A. 2020 Jul;182(7):1572-1575. doi: 10.1002/ajmg.a.61617. Epub 2020 May 14. Am J Med Genet A. 2020. PMID: 32406590

10

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Beauchamp MC, Alam SS, Kumar S, Jerome-Majewska LA. Beauchamp MC, et al. Dev Dyn. 2020 Aug;249(8):924-945. doi: 10.1002/dvdy.183. Epub 2020 May 21. Dev Dyn. 2020. PMID: 32315467 Free article. Review.

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