Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984.
medRxiv. 2024.
PMID: 38562733
Free PMC article.
Preprint.
DHDDS and NUS1: A Converging Pathway and Common Phenotype.
Williams LJ, Waller S, Qiu J, Innes E, Elserafy N, Procopis P, Sampaio H, Mahant N, Tchan MC, Mohammad SS, Morales-Briceño H, Fung VSC.
Williams LJ, et al. Among authors: elserafy n.
Mov Disord Clin Pract. 2024 Jan;11(1):76-85. doi: 10.1002/mdc3.13920. Epub 2023 Nov 28.
Mov Disord Clin Pract. 2024.
PMID: 38291835
Review.
Item in Clipboard
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A.
Oh RY, et al. Among authors: elserafy n.
Genet Med. 2022 Nov;24(11):2399-2407. doi: 10.1016/j.gim.2022.07.024. Epub 2022 Sep 9.
Genet Med. 2022.
PMID: 36083289
Free article.
Item in Clipboard
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Guimier A, et al. Among authors: elserafy na.
Genet Med. 2022 Apr;24(4):967. doi: 10.1016/j.gim.2022.02.002.
Genet Med. 2022.
PMID: 35394429
Free article.
No abstract available.
Item in Clipboard
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Guimier A, et al. Among authors: elserafy na.
Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16.
Genet Med. 2021.
PMID: 34400813
Free PMC article.
Item in Clipboard
Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.
Elserafy N, Thompson S, Dalkeith T, Stormon M, Thomas G, Shun A, Sawyer J, Balasubramanian S, Bhattacharya K, Badawi N, Ellaway C.
Elserafy N, et al.
JIMD Rep. 2021 May 4;60(1):88-95. doi: 10.1002/jmd2.12219. eCollection 2021 Jul.
JIMD Rep. 2021.
PMID: 34258144
Free PMC article.
Item in Clipboard
Short-acting erythropoiesis-stimulating agents for anaemia in predialysis patients.
Hahn D, Esezobor CI, Elserafy N, Webster AC, Hodson EM.
Hahn D, et al. Among authors: elserafy n.
Cochrane Database Syst Rev. 2017 Jan 9;1(1):CD011690. doi: 10.1002/14651858.CD011690.pub2.
Cochrane Database Syst Rev. 2017.
PMID: 28066881
Free PMC article.
Review.
Item in Clipboard
Cite
Cite