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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
1993 4
1998 1
1999 2
2000 3
2001 1
2002 1
2003 3
2004 3
2005 1
2006 1
2007 2
2008 3
2009 4
2010 5
2011 3
2012 4
2013 6
2014 4
2015 8
2016 7
2017 2
2018 10
2019 5
2020 7
2021 6
2022 2
2023 3
2024 1
2025 1

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92 results

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Page 1
Duarte Variant Galactosemia.
Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Fridovich-Keil JL, et al. Among authors: gambello mj. 2014 Dec 4 [updated 2020 Jun 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Dec 4 [updated 2020 Jun 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 25473725 Free Books & Documents. Review.
3q29 Recurrent Deletion.
Mulle JG, Gambello MJ, Sanchez Russo R, Murphy MM, Burrell TL, Klaiman C, White S, Saulnier CA, Walker EF, Cubells JF, Shultz S, Li L. Mulle JG, et al. Among authors: gambello mj. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2016 Sep 22 [updated 2021 Jul 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 27656750 Free Books & Documents. Review.
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Sanchez Russo R, Dormans JP, Mulle JG. Pollak RM, et al. Among authors: gambello mj. Am J Med Genet A. 2023 Nov;191(11):2749-2756. doi: 10.1002/ajmg.a.63384. Epub 2023 Sep 10. Am J Med Genet A. 2023. PMID: 37691301 Free PMC article.
Murine modelling of classical lissencephaly.
Gambello MJ, Hirotsune S, Wynshaw-Boris A. Gambello MJ, et al. Neurogenetics. 1999 Apr;2(2):77-86. doi: 10.1007/s100480050056. Neurogenetics. 1999. PMID: 10369882 Review.
Longitudinal multi-omics reveals pathogenic TSC2 variants disrupt developmental trajectories of human cortical organoids derived from Tuberous Sclerosis Complex.
Niu W, Yu S, Li X, Wang Z, Chen R, Michalski C, Jahangiri A, Zohdy Y, Chern JJ, Whitworth TJ, Wang J, Xu J, Zhou Y, Qin Z, Li B, Gambello MJ, Peng J, Wen Z. Niu W, et al. Among authors: gambello mj. bioRxiv [Preprint]. 2024 Oct 11:2024.10.07.617121. doi: 10.1101/2024.10.07.617121. bioRxiv. 2024. PMID: 39416123 Free PMC article. Preprint.
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium; Vanderver A, Bernard G. Perrier S, et al. Among authors: gambello mj. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21. Clin Genet. 2018. PMID: 28857146
Genetics in the twenty-first century. Preface.
Gambello MJ, Sutton VR. Gambello MJ, et al. Clin Perinatol. 2015 Jun;42(2):xxi-xxii. doi: 10.1016/j.clp.2015.04.001. Clin Perinatol. 2015. PMID: 26042915 No abstract available.
92 results