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

Year Number of Results
1991 1
1992 2
1993 3
1994 1
2000 1
2001 2
2002 1
2003 4
2005 2
2006 1
2007 1
2008 3
2009 3
2010 3
2011 5
2012 3
2013 3
2014 5
2016 2
2018 1
2019 3
2020 1
2021 1
2022 1
2023 0
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47 results
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Page 1
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Among authors: holder se. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V. Lenaerts L, et al. Among authors: holder se. Genet Med. 2021 Feb;23(2):352-362. doi: 10.1038/s41436-020-00981-2. Epub 2020 Oct 27. Genet Med. 2021. PMID: 33106617 Free PMC article.
The protean manifestations of RASA1 gene mutation.
Nicholson P, Holder SE, Carton J, Wakelin S. Nicholson P, et al. Among authors: holder se. Clin Exp Dermatol. 2019 Oct;44(7):818-821. doi: 10.1111/ced.13898. Epub 2019 Jan 6. Clin Exp Dermatol. 2019. PMID: 30614029 No abstract available.
Keipert syndrome: two further cases and review of the literature.
Nik-Zainal S, Holder SE, Cruwys M, Hall CM, Shaw-Smith C. Nik-Zainal S, et al. Among authors: holder se. Clin Dysmorphol. 2008 Jul;17(3):169-175. doi: 10.1097/MCD.0b013e3282f4afc3. Clin Dysmorphol. 2008. PMID: 18541962 Review. No abstract available.
Genitopatellar syndrome: a further case.
Brugha R, Kinali M, Aminu K, Bridges N, Holder SE. Brugha R, et al. Among authors: holder se. Clin Dysmorphol. 2011 Jul;20(3):163-165. doi: 10.1097/MCD.0b013e328345a1dd. Clin Dysmorphol. 2011. PMID: 21412151 No abstract available.
Otopalatodigital syndrome type II.
Holder SE, Winter RM. Holder SE, et al. J Med Genet. 1993 Apr;30(4):310-3. doi: 10.1136/jmg.30.4.310. J Med Genet. 1993. PMID: 8487277 Free PMC article. No abstract available.
Chitayat-Hall syndrome: extending the clinical phenotype.
Rao V, El-Alem T, Aminu K, Mankad K, Cowan F, Holder SE, Kinali M. Rao V, et al. Among authors: holder se. Clin Dysmorphol. 2013 Oct;22(4):156-160. doi: 10.1097/MCD.0000000000000006. Clin Dysmorphol. 2013. PMID: 24326959 No abstract available.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; McNeill A, Graziano C, Lefebvre V. Zawerton A, et al. Among authors: holder se. Am J Hum Genet. 2019 Apr 4;104(4):777. doi: 10.1016/j.ajhg.2019.01.014. Am J Hum Genet. 2019. PMID: 30951678 Free PMC article. No abstract available.
47 results