PubMed for id: 477107

Year	Number of Results
2008	1
2009	1
2010	17
2011	50
2012	46
2013	45
2014	49
2015	49
2016	39
2017	36
2018	48
2019	44
2020	48
2021	43
2022	45
2023	33

1

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. Deltas C, et al. Genes (Basel). 2023 Aug 25;14(9):1686. doi: 10.3390/genes14091686. Genes (Basel). 2023. PMID: 37761826 Free PMC article. Review.

2

[Clinical and genetic analysis of a child with X-linked dominant Alport syndrome].

Chang T, Han Z, Liu X, Wang P. Chang T, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Oct 10;40(10):1270-1274. doi: 10.3760/cma.j.cn511374-20221020-00705. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37730229 Chinese.

3

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature.

Shalata A, Bar-Shai M, Hadid Y, Mahroum M, Mintz H, Shalata ZE, Radzishevsky E, Genizi J, Lorber A, Ben-Yosef T, Yaniv L. Shalata A, et al. Genes (Basel). 2023 Jul 27;14(8):1539. doi: 10.3390/genes14081539. Genes (Basel). 2023. PMID: 37628591 Free PMC article. Review.

4

The hereditary spastic paraplegias.

Fink JK. Fink JK. Handb Clin Neurol. 2023;196:59-88. doi: 10.1016/B978-0-323-98817-9.00022-3. Handb Clin Neurol. 2023. PMID: 37620092 Review.

5

Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.

Liang L, Wu H, Cai Z, Zhao J. Liang L, et al. BMC Med Genomics. 2023 Aug 18;16(1):192. doi: 10.1186/s12920-023-01623-7. BMC Med Genomics. 2023. PMID: 37596645 Free PMC article.

6

Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.

Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.

7

Clinical manifestations and MRI features of Danon disease: a case series.

Zhang Y, Zhao R, Yuan Y, Yu Y, Liu B, Li X. Zhang Y, et al. BMC Cardiovasc Disord. 2023 Aug 11;23(1):397. doi: 10.1186/s12872-023-03356-y. BMC Cardiovasc Disord. 2023. PMID: 37568080 Free PMC article.

8

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP. Yapijakis C, et al. Adv Exp Med Biol. 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. Adv Exp Med Biol. 2023. PMID: 37525042

9

Joubert syndrome: a case report of neonatal presentation and early diagnosis.

González-Gordillo CI, Orozco-Soto LE, Osegueda-Mayen JR, Nava-Tapia A, Martinez-Monreal D. González-Gordillo CI, et al. Bol Med Hosp Infant Mex. 2023;80(Supl 1):23-27. doi: 10.24875/BMHIM.22000075. Bol Med Hosp Infant Mex. 2023. PMID: 37490694 Free article. English.

10

Phenotypic variability to medication management: an update on fragile X syndrome.

Elhawary NA, AlJahdali IA, Abumansour IS, Azher ZA, Falemban AH, Madani WM, Alosaimi W, Alghamdi G, Sindi IA. Elhawary NA, et al. Hum Genomics. 2023 Jul 7;17(1):60. doi: 10.1186/s40246-023-00507-2. Hum Genomics. 2023. PMID: 37420260 Free PMC article. Review.

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