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

Year Number of Results
1997 2
1998 8
1999 3
2000 4
2001 12
2002 11
2003 3
2005 2
2006 1
2008 2
2009 1
2011 3
2012 1
2013 1
2014 5
2015 5
2016 4
2017 1
2018 4
2019 5
2020 7
2021 6
2022 2
2023 4
2024 1

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93 results

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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Infantile Scurvy.
Kaur S, Goraya JS. Kaur S, et al. Among authors: goraya js. Indian Pediatr. 2017 Aug 15;54(8):699. Indian Pediatr. 2017. PMID: 28891493 Free article. No abstract available.
Aicardi syndrome.
Singh P, Goraya JS, Saggar K, Ahluwalia A. Singh P, et al. Among authors: goraya js. Singapore Med J. 2012 Jul;53(7):e153-5. Singapore Med J. 2012. PMID: 22815034 Free article.
Cerebral palsy.
Singhi PD, Goraya JS. Singhi PD, et al. Among authors: goraya js. Indian Pediatr. 1998 Jan;35(1):37-48. Indian Pediatr. 1998. PMID: 9707903 No abstract available.
Intracranial calcifications in childhood.
Goraya JS. Goraya JS. Pediatr Radiol. 2021 Jul;51(8):1539-1540. doi: 10.1007/s00247-020-04938-0. Epub 2021 Jan 12. Pediatr Radiol. 2021. PMID: 33433672 No abstract available.
A vermiculate tongue.
Goraya JS, Mehra B, Singla G. Goraya JS, et al. Pediatr Neurol. 2014 Nov;51(5):750. doi: 10.1016/j.pediatrneurol.2014.07.016. Epub 2014 Jul 22. Pediatr Neurol. 2014. PMID: 25286831 No abstract available.
Rusty-pipe syndrome.
Virdi VS, Goraya JS, Khadwal A. Virdi VS, et al. Among authors: goraya js. Indian Pediatr. 2001 Aug;38(8):931-2. Indian Pediatr. 2001. PMID: 11521014 No abstract available.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Beau lines.
Goraya JS, Kaur S. Goraya JS, et al. J Pediatr. 2014 Jan;164(1):205. doi: 10.1016/j.jpeds.2013.08.032. Epub 2013 Sep 24. J Pediatr. 2014. PMID: 24070829 No abstract available.
93 results