PubMed for id: 868065

Year	Number of Results
2013	62
2014	72
2015	60
2016	56
2017	59
2018	54
2019	66
2020	55
2021	44
2022	44
2023	20

1

Drosophila Atlastin regulates synaptic vesicle mobilization independent of bone morphogenetic protein signaling.

Bertin F, Jara-Wilde J, Auer B, Köhler-Solís A, González-Silva C, Thomas U, Sierralta J. Bertin F, et al. Biol Res. 2023 Sep 14;56(1):49. doi: 10.1186/s40659-023-00462-1. Biol Res. 2023. PMID: 37710314 Free PMC article.

2

A novel smoothed (SMO) point mutation in congenital tibial hemimelia: a case report.

Yang X, Pu S, Xiang B, Tang X, Chen J. Yang X, et al. BMC Pediatr. 2023 Aug 25;23(1):424. doi: 10.1186/s12887-023-04167-y. BMC Pediatr. 2023. PMID: 37626311 Free PMC article.

3

Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China.

Yan L, Cao J, Zhang Y, Liu Y, Zou J, Lou B, Zhuang D, Li H. Yan L, et al. BMC Med Genomics. 2023 Aug 17;16(1):190. doi: 10.1186/s12920-023-01631-7. BMC Med Genomics. 2023. PMID: 37592254 Free PMC article.

4

Low skeletal muscle mass as an early sign in children with fabry disease.

Lu Z, Huang G, Yu L, Wang Y, Gao L, Lin L, Hu L, Mao J. Lu Z, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):199. doi: 10.1186/s13023-023-02806-2. Orphanet J Rare Dis. 2023. PMID: 37480128 Free PMC article.

5

COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.

Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. Rebello D, et al. Hum Mol Genet. 2023 Sep 16;32(19):2913-2928. doi: 10.1093/hmg/ddad117. Hum Mol Genet. 2023. PMID: 37462524

6

Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin.

Tauseef U, Ibrahim M, Noor N, Hanif M. Tauseef U, et al. J Ayub Med Coll Abbottabad. 2023 Apr-Jun;35(2):341-347. doi: 10.55519/JAMC-02-11056. J Ayub Med Coll Abbottabad. 2023. PMID: 37422836 Free article.

7

Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.

Beke A, da Costa Silveira K, Athey T, Kannu P. Beke A, et al. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):188-192. doi: 10.1002/ajmg.c.32053. Epub 2023 May 24. Am J Med Genet C Semin Med Genet. 2023. PMID: 37226647

8

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”. Tonni G, et al. Fetal Pediatr Pathol. 2023 Aug;42(4):651-674. doi: 10.1080/15513815.2023.2206905. Epub 2023 May 17. Fetal Pediatr Pathol. 2023. PMID: 37195727

9

Proband and the Brother.

B S, Kotha JP. B S, et al. J Assoc Physicians India. 2023 Jan;71(1):1. J Assoc Physicians India. 2023. PMID: 37116016

10

Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.

Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz-Manera J, Korb M, Wicklund MP, Milone M, Freimer M, Kushlaf H, Villar-Quiles RN, Stojkovic T, Needham M, Palmio J, Lloyd TE, Keung B, Mozaffar T, Weihl CC, Kimonis V. Roy B, et al. Ann Clin Transl Neurol. 2023 May;10(5):686-695. doi: 10.1002/acn3.51760. Epub 2023 Apr 7. Ann Clin Transl Neurol. 2023. PMID: 37026610 Free PMC article. Review.

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