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Results by year

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

Year Number of Results
1993 78
1999 1
2001 1
2002 2
2003 1
2004 1
2005 1
2006 1
2007 1
2008 1
2009 3
2012 1
2013 2
2014 1
2015 1
2016 5
2017 5
2018 2
2019 6
2020 7
2021 15
2022 20
2023 18
2024 15
2025 2

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Related Articles by Review for PMID: 36508512

82 results

Results by year

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Page 1
NR2F1-Related Neurodevelopmental Disorder.
Schaaf C, Yu-Wai-Man P, Valentin I. Schaaf C, et al. 2022 Dec 8. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2022 Dec 8. 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: 36508512 Free Books & Documents. Review.
FOXP1 Syndrome.
Rappold G, Siper P, Kostic A, Braden R, Morgan A, Koene S, Kolevzon A. Rappold G, et al. 2023 Sep 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2023 Sep 21. 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: 37733892 Free Books & Documents. Review.
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D. Kaiwar C, et al. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28963436 Free PMC article. Review.
CSNK2B-Related Neurodevelopmental Disorder.
Lippa N, Mulhern M, Ernst Florido M, Earley C, Sands TT. Lippa N, et al. 2024 Sep 5. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Sep 5. 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: 39236211 Free Books & Documents. Review.
WFS1 Spectrum Disorder.
Barrett T, Tranebjærg L, Gupta R, McCarthy L, Rendtorff ND, Williams D, Wright B, Dias R. Barrett T, et al. 2009 Feb 24 [updated 2022 Dec 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. 2009 Feb 24 [updated 2022 Dec 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: 20301750 Free Books & Documents. Review.
ATN1-Related Neurodevelopmental Disorder.
Whitton C, Palmer E, Alkuraya F. Whitton C, et al. 2022 Aug 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. 2022 Aug 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: 36007104 Free Books & Documents. Review.
DDX3X-Related Neurodevelopmental Disorder.
Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH. Johnson-Kerner B, et al. 2020 Aug 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2020 Aug 27. 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: 32852922 Free Books & Documents. Review.
CLCN4-Related Neurodevelopmental Disorder.
Palmer EE, Nguyen MH, Forwood C, Kalscheuer V. Palmer EE, et al. 2021 Dec 16. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2021 Dec 16. 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: 34928551 Free Books & Documents. Review.
DYNC1H1-Related Disorders.
Möller B, Coppola A, Jungbluth H, Dafsari HS. Möller B, et al. 2024 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Mar 21. 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: 38513047 Free Books & Documents. Review.
Phelan-McDermid Syndrome-SHANK3 Related.
Phelan K, Rogers RC, Boccuto L. Phelan K, et al. 2005 May 11 [updated 2024 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 May 11 [updated 2024 Jun 6]. 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: 20301377 Free Books & Documents. Review.
82 results