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Year Number of Results
1997 2
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94 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.
Bacille Calmette-Guérin lymphadenitis.
Goraya JS, Virdi VS. Goraya JS, et al. Postgrad Med J. 2002 Jun;78(920):327-9. doi: 10.1136/pmj.78.920.327. Postgrad Med J. 2002. PMID: 12151684 Free PMC article. Review.
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.
Wimberger's sign.
Goraya JS, Trehan A, Marwaha RK. Goraya JS, et al. Indian Pediatr. 1997 Dec;34(12):1133-4. Indian Pediatr. 1997. PMID: 9715562 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.
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.
Febrile myoclonus.
Narula S, Goraya JS. Narula S, et al. Among authors: goraya js. Neurology. 2005 Jan 11;64(1):169-70. doi: 10.1212/01.WNL.0000148721.26156.18. Neurology. 2005. PMID: 15642934 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.
94 results