PubMed for id: 326907

Year	Number of Results
1975	2
1980	3
1982	1
1985	2
1987	1
1988	1
1989	1
1990	1
1992	1
1993	3
1994	3
1995	6
1996	1
1997	4
1998	6
1999	3
2000	4
2001	2
2002	4
2003	2
2004	2
2005	7
2006	3
2007	7
2008	8
2009	5
2010	16
2011	7
2012	8
2013	6
2014	3
2015	9
2016	7
2017	12
2018	5
2019	3
2020	10
2021	11
2022	8
2023	4
2024	1

1

Cephalometric Improvement of Severe Microretrognathia With an Anterior Open Bite Using Curvilinear Mandibular Distraction Osteogenesis.

Li J, Gerety PA, Xu W, Bartlett SP, Taylor JA. Li J, et al. J Craniofac Surg. 2017 Jul;28(5):1242-1247. doi: 10.1097/SCS.0000000000003700. J Craniofac Surg. 2017. PMID: 28582295

2

Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility.

Chen H, Young R, Mu X, Nandi K, Miao S, Prouty L, Ursin S, Gonzalez J, Yanamandra K. Chen H, et al. Am J Med Genet. 1999 Jan 29;82(3):215-8. doi: 10.1002/(sici)1096-8628(19990129)82:3<215::aid-ajmg4>3.0.co;2-z. Am J Med Genet. 1999. PMID: 10215543

3

ARF1-related disorder: phenotypic and molecular spectrum.

de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.

4

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene.

Serra G, Antona V, Di Pace MR, Giuffrè M, Morgante G, Piro E, Pirrello R, Salerno S, Schierz IAM, Verde V, Corsello G. Serra G, et al. Ital J Pediatr. 2022 Dec 29;48(1):206. doi: 10.1186/s13052-022-01403-6. Ital J Pediatr. 2022. PMID: 36581928 Free PMC article.

5

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.

Elgaz S, Wittekindt B, Esmaeili A, Fischer S, Bolz HJ, Zechner U, Buxmann H. Elgaz S, et al. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006213. doi: 10.1101/mcs.a006213. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307213 Free PMC article.

6

[Congenital neutropenia type IV: case report].

Peruffo MV, Nainsztein G, Salvaneschi Quiña V, Samaruga C, Cuello MF, Romano S, Caferri H. Peruffo MV, et al. Arch Argent Pediatr. 2022 Oct;120(5):e213-e217. doi: 10.5546/aap.2022.e213. Epub 2022 Aug 30. Arch Argent Pediatr. 2022. PMID: 36190223 Free article. Spanish.

7

A very rare case of a newborn with tetrasomy 9p and literature review.

Süleyman M, Oğuz S, Kaykı G, Çelik HT, Şimsek-Kiper PÖ, Utine GE, Yiğit Ş. Süleyman M, et al. Turk J Pediatr. 2022;64(1):171-178. doi: 10.24953/turkjped.2021.685. Turk J Pediatr. 2022. PMID: 35286047 Free article. Review.

8

[Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation].

Gao J, Wang J, Han Y, Deng Q, Wang X, Cai W, Chen Y. Gao J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):35-38. doi: 10.3760/cma.j.cn511374-20201112-00794. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 34964963 Chinese.

9

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Popescu R, Grămescu M, Caba L, Pânzaru MC, Butnariu L, Braha E, Popa S, Rusu C, Cardos G, Zeleniuc M, Martiniuc V, Gug C, Păduraru L, Stamatin M, Diaconu CC, Gorduza EV. Popescu R, et al. Genes (Basel). 2021 Dec 7;12(12):1957. doi: 10.3390/genes12121957. Genes (Basel). 2021. PMID: 34946906 Free PMC article. Review.

10

Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

McDermott H, Robinson HK, Caswell R, Gowda H, Offiah A, Naik S. McDermott H, et al. Am J Med Genet A. 2022 Jan;188(1):298-303. doi: 10.1002/ajmg.a.62499. Epub 2021 Sep 24. Am J Med Genet A. 2022. PMID: 34558814

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