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Year Number of Results
1998 1
1999 1
2003 1
2004 2
2005 1
2006 1
2009 2
2010 1
2013 1
2015 1
2016 1
2017 2
2018 4
2019 7
2020 3
2022 1
2023 2
2024 1

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29 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.
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.
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.
Von Willebrand's disease: case report and review of literature.
Echahdi H, El Hasbaoui B, El Khorassani M, Agadr A, Khattab M. Echahdi H, et al. Among authors: el khorassani m. Pan Afr Med J. 2017 Jun 29;27:147. doi: 10.11604/pamj.2017.27.147.12248. eCollection 2017. Pan Afr Med J. 2017. PMID: 28904675 Free PMC article. Review.
Cytogenetic Profile of Moroccan Pediatric Acute Lymphoblastic Leukemia: Analysis of 155 Cases With a Review of the Literature.
Chebihi ZT, Belkhayat A, Chadli E, Hilal L, Skhoun H, Hessissen L, El Khorassani M, El Kababri M, Kili A, Khattab M, Bakri Y, Dakka N. Chebihi ZT, et al. Among authors: el khorassani m. Clin Lymphoma Myeloma Leuk. 2018 Jun;18(6):e241-e248. doi: 10.1016/j.clml.2018.04.004. Epub 2018 Apr 25. Clin Lymphoma Myeloma Leuk. 2018. PMID: 29748040 Review.
REACH: A programme for improving care in haemophilia.
Goga Y, Boukari R, Bensadok M, El Khorassani M, Khelif A, Al Rawas A, Alkasim F, Shaheen NM, Negrier C. Goga Y, et al. Among authors: el khorassani m. Haemophilia. 2019 May;25(3):e211-e215. doi: 10.1111/hae.13726. Epub 2019 Mar 19. Haemophilia. 2019. PMID: 30888109 No abstract available.
Pediatric rhabdomyosarcoma in Morocco.
Hessissen L, Kanouni L, Kili A, Nachef MN, El Khorassani M, Benjaafar N, Khattab M, El Gueddari Bel K. Hessissen L, et al. Among authors: el khorassani m. Pediatr Blood Cancer. 2010 Jan;54(1):25-8. doi: 10.1002/pbc.22173. Pediatr Blood Cancer. 2010. PMID: 19746454
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Among authors: el khorassani m. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
The World Federation of Hemophilia World Bleeding Disorders Registry: insights from the first 10,000 patients.
Coffin D, Gouider E, Konkle B, Hermans C, Lambert C, Diop S, Ayoub E, Tootoonchian E, Youttananukorn T, Dakik P, Pereira T, Iorio A, Pierce GF; World Bleeding Disorders Registry Participating Investigators. Coffin D, et al. Res Pract Thromb Haemost. 2023 Nov 20;7(8):102264. doi: 10.1016/j.rpth.2023.102264. eCollection 2023 Nov. Res Pract Thromb Haemost. 2023. PMID: 38193052 Free PMC article.
29 results