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Page 1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S… See abstract for full author list ➔ Monies D, et al. Among authors: szonyi l. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9. Hum Genet. 2017. PMID: 28600779 Free PMC article.
Mutation spectrum of type I glycogen storage disease in Hungary.
Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke AR. Miltenberger-Miltenyi G, et al. Among authors: szonyi l. J Inherit Metab Dis. 2005;28(6):939-44. doi: 10.1007/s10545-005-0186-7. J Inherit Metab Dis. 2005. PMID: 16435186
Late hepatic toxicity surveillance for survivors of childhood, adolescent and young adult cancer: Recommendations from the international late effects of childhood cancer guideline harmonization group.
Bardi E, Mulder RL, van Dalen EC, Bhatt NS, Ruble KA, Burgis J, Castellino SM, Constine LS, den Hoed CM, Green DM, Koot BGP, Levitt G, Szonyi L, Wallace WH, Skinner R, Hudson MM, Kremer LCM, Effinger KE, Bresters D. Bardi E, et al. Among authors: szonyi l. Cancer Treat Rev. 2021 Nov;100:102296. doi: 10.1016/j.ctrv.2021.102296. Epub 2021 Sep 20. Cancer Treat Rev. 2021. PMID: 34571378 Review.
Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.
Oaks Z, Jimah J, Grossman CC, Beckford M, Kelly R, Banerjee S, Niland B, Miklossy G, Kuloglu Z, Kansu A, Lee W, Szonyi L, Banki K, Perl A. Oaks Z, et al. Among authors: szonyi l. J Inherit Metab Dis. 2020 May;43(3):496-506. doi: 10.1002/jimd.12197. Epub 2020 Jan 1. J Inherit Metab Dis. 2020. PMID: 31769880 Free PMC article.
Hepatic late adverse effects after antineoplastic treatment for childhood cancer.
Mulder RL, Bresters D, Van den Hof M, Koot BG, Castellino SM, Loke YKK, Post PN, Postma A, Szőnyi LP, Levitt GA, Bardi E, Skinner R, van Dalen EC. Mulder RL, et al. Among authors: szonyi lp. Cochrane Database Syst Rev. 2019 Apr 15;4(4):CD008205. doi: 10.1002/14651858.CD008205.pub3. Cochrane Database Syst Rev. 2019. PMID: 30985922 Free PMC article.
[DISEASE BURDEN OP DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND THEIR CAREGIVERS].
Péntek M, Herczegfalvi Á, Molnár MJ, Szőnyi LP, Kosztolányi G, Pfliegler G, Melegh B, Boncz I, Brodszky V, Baji P, Szegedi M, Pogány G, Gulácsi L. Péntek M, et al. Among authors: szonyi lp. Ideggyogy Sz. 2016 Mar 30;69(5-6):183-93. doi: 10.18071/isz.69.0183. Ideggyogy Sz. 2016. PMID: 27468608 Free article. Hungarian.
[Post-transplantation lymphoproliferative disorder in childhood].
Stréhn A, Szőnyi L, Kriván G, Kovács L, Reusz G, Szabó A, Rényi I, Kovács G, Dezsőfi A. Stréhn A, et al. Among authors: szonyi l. Orv Hetil. 2014 Feb 23;155(8):313-8. doi: 10.1556/OH.2014.29796. Orv Hetil. 2014. PMID: 24534879 Hungarian.
58 results