These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 38125836)

  • 1. Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.
    Witzel MGW; Gebhard C; Wenzel S; Kleier S; Eichhorn B; Lorenz P; von der Heyden L; Kuhn M; Luedeke M; Döcker M; Jüngling J; Schulte B; Hörtnagel K; Glaubitz R; Knippenberger S; Teubert A; Abicht A; Neuhann TM
    Front Neurol; 2023; 14():1276238. PubMed ID: 38125836
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
    Tumienė B; Maver A; Writzl K; Hodžić A; Čuturilo G; Kuzmanić-Šamija R; Čulić V; Peterlin B
    Clin Genet; 2018 May; 93(5):1057-1062. PubMed ID: 29286531
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
    Koh HY; Smith L; Wiltrout KN; Podury A; Chourasia N; D'Gama AM; Park M; Knight D; Sexton EL; Koh JJ; Oby B; Pinsky R; Shao DD; French CE; Shao W; Rockowitz S; Sliz P; Zhang B; Mahida S; Moufawad El Achkar C; Yuskaitis CJ; Olson HE; Sheidley BR; Poduri AH;
    JAMA Netw Open; 2023 Jul; 6(7):e2324380. PubMed ID: 37471090
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
    Zhu X; Gao Z; Wang Y; Huang W; Li Q; Jiao Z; Liu N; Kong X
    Ultrasound Obstet Gynecol; 2022 Dec; 60(6):780-792. PubMed ID: 35726512
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
    Baalmann N; Spielmann M; Gillessen-Kaesbach G; Hanker B; Schmidt J; Lill CM; Hellenbroich Y; Greiten B; Lohmann K; Trinh J; Hüning I
    Eur J Med Genet; 2023 Jul; 66(7):104774. PubMed ID: 37120078
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
    Amadori E; Scala M; Cereda GS; Vari MS; Marchese F; Di Pisa V; Mancardi MM; Giacomini T; Siri L; Vercellino F; Serino D; Orsini A; Bonuccelli A; Bagnasco I; Papa A; Minetti C; Cordelli DM; Striano P
    Ital J Pediatr; 2020 Jul; 46(1):92. PubMed ID: 32631363
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study.
    Chen W; Qin J; Shen Y; Liang J; Cui Y; Zhang Y
    Brain Dev; 2021 Nov; 43(10):1004-1012. PubMed ID: 34120799
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy.
    Tsang MH; Leung GK; Ho AC; Yeung KS; Mak CC; Pei SL; Yu MH; Kan AS; Chan KY; Kwong KL; Lee SL; Yung AW; Fung CW; Chung BH
    Epilepsia Open; 2019 Mar; 4(1):63-72. PubMed ID: 30868116
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.
    Akbar F; Saleh R; Kirmani S; Chand P; Mukhtiar K; Jan F; Kumar R; Ibrahim S
    Epilepsy Behav Rep; 2022; 20():100575. PubMed ID: 36471706
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
    Wurfbain LF; Cox IL; van Dooren MF; Lachmeijer AMA; Verhoeven VJM; van Hagen JM; Heijligers M; Klein Wassink-Ruiter JS; Koene S; Maas SM; Veenstra-Knol HE; Ploos van Amstel JK; Massink MPG; Mink van der Molen AB; van den Boogaard MH
    Mol Syndromol; 2023 Aug; 14(4):270-282. PubMed ID: 37589029
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
    Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
    Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
    Gall K; Izzo E; Seppälä EH; Alakurtti K; Koskinen L; Saarinen I; Singh A; Myllykangas S; Koskenvuo J; Alastalo TP
    PLoS One; 2021; 16(9):e0255933. PubMed ID: 34469436
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
    Diderich KEM; Klapwijk JE; van der Schoot V; van den Born M; Wilke M; Joosten M; Stuurman KE; Hoefsloot LH; Van Opstal D; Brüggenwirth HT; Srebniak MI
    Eur J Med Genet; 2023 Oct; 66(10):104844. PubMed ID: 37709011
    [TBL] [Abstract][Full Text] [Related]  

  • 14.
    Bloch-Zupan A; Rey T; Jimenez-Armijo A; Kawczynski M; Kharouf N; ; Dure-Molla M; Noirrit E; Hernandez M; Joseph-Beaudin C; Lopez S; Tardieu C; Thivichon-Prince B; ; Dostalova T; Macek M; ; Alloussi ME; Qebibo L; Morkmued S; Pungchanchaikul P; Orellana BU; Manière MC; Gérard B; Bugueno IM; Laugel-Haushalter V
    Front Physiol; 2023; 14():1130175. PubMed ID: 37228816
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
    Perucca P; Scheffer IE; Harvey AS; James PA; Lunke S; Thorne N; Gaff C; Regan BM; Damiano JA; Hildebrand MS; Berkovic SF; O'Brien TJ; Kwan P
    Epilepsy Res; 2017 Mar; 131():1-8. PubMed ID: 28199897
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
    Fung CW; Kwong AK; Wong VC
    Epilepsia Open; 2017 Jun; 2(2):236-243. PubMed ID: 29588952
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    Roston A; Evans D; Gill H; McKinnon M; Isidor B; Cogné B; Mwenifumbo J; van Karnebeek C; An J; Jones SJM; Farrer M; Demos M; Connolly M; Gibson WT; ;
    J Med Genet; 2021 Mar; 58(3):196-204. PubMed ID: 32546566
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.
    Mone F; Eberhardt RY; Hurles ME; Mcmullan DJ; Maher ER; Lord J; Chitty LS; Dempsey E; Homfray T; Giordano JL; Wapner RJ; Sun L; Sparks TN; Norton ME; Kilby MD
    Ultrasound Obstet Gynecol; 2021 Oct; 58(4):509-518. PubMed ID: 33847422
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
    Houston BJ; Riera-Escamilla A; Wyrwoll MJ; Salas-Huetos A; Xavier MJ; Nagirnaja L; Friedrich C; Conrad DF; Aston KI; Krausz C; Tüttelmann F; O'Bryan MK; Veltman JA; Oud MS
    Hum Reprod Update; 2021 Dec; 28(1):15-29. PubMed ID: 34498060
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome Sequencing in an ADSHE Family: VUS Identification and Limits.
    Villa C; Arrigoni F; Rivellini E; Lavitrano M; De Gioia L; Ferini-Strambi L; Combi R
    Int J Environ Res Public Health; 2022 Oct; 19(19):. PubMed ID: 36231847
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.