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 *

132 related articles for article (PubMed ID: 37732012)

  • 1. Case report: Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency.
    Zeka N; Zeka E; Zhubi E; Hoxha I
    Front Pediatr; 2023; 11():1230056. PubMed ID: 37732012
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Novel Frameshift
    Da Silva JD; Oliva-Teles N; Tkachenko N; Fino J; Marques M; Fortuna AM; David D
    Biomedicines; 2022 Dec; 11(1):. PubMed ID: 36672520
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome].
    Zhou X; Wang Q; Liu Y; Liu J; Yuan H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan; 38(1):63-66. PubMed ID: 33423261
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 5. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
    Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
    [No Abstract]   [Full Text] [Related]  

  • 6. Divergent phenotypes in constitutive versus conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome.
    Larrigan S; Joshi SV; Mattar P
    Hum Mol Genet; 2023 Dec; 32(24):3361-3373. PubMed ID: 37738575
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].
    Tian XJ; Wang XH; Ding CH; Fang F; Dai LF; Deng J; Wang HM
    Zhonghua Er Ke Za Zhi; 2022 Mar; 60(3):232-236. PubMed ID: 35240744
    [No Abstract]   [Full Text] [Related]  

  • 8. [Phenomenology and psychiatric origins of psychogenic non-epileptic seizures].
    Ristić AJ; Petrović I; Vojvodić N; Janković S; Sokić D
    Srp Arh Celok Lek; 2004; 132(1-2):22-7. PubMed ID: 15227961
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
    Yang Y; Zhang YH; Chen JY; Ma JH; Sun D; Yang XL; Zhang J; Chen Y; Wu XR
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):118-122. PubMed ID: 32102148
    [No Abstract]   [Full Text] [Related]  

  • 10. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
    Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
    Krenn M; Schloegl M; Pataraia E; Gelpi E; Schröder S; Rauscher C; Mayr JA; Kotzot D; Zimprich F; Meitinger T; Wagner M
    Seizure; 2021 Apr; 87():25-29. PubMed ID: 33677401
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
    Cherian C; Appendino JP; Ashtiani S; Federico P; Molnar CP; Kerr M; Khan A; Au PYB; Klein KM
    J Neurol; 2022 Apr; 269(4):2162-2171. PubMed ID: 34537872
    [TBL] [Abstract][Full Text] [Related]  

  • 14. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
    Bonardi CM; Heyne HO; Fiannacca M; Fitzgerald MP; Gardella E; Gunning B; Olofsson K; Lesca G; Verbeek N; Stamberger H; Striano P; Zara F; Mancardi MM; Nava C; Syrbe S; Buono S; Baulac S; Coppola A; Weckhuysen S; Schoonjans AS; Ceulemans B; Sarret C; Baumgartner T; Muhle H; Portes VD; Toulouse J; Nougues MC; Rossi M; Demarquay G; Ville D; Hirsch E; Maurey H; Willems M; de Bellescize J; Altuzarra CD; Villeneuve N; Bartolomei F; Picard F; Hornemann F; Koolen DA; Kroes HY; Reale C; Fenger CD; Tan WH; Dibbens L; Bearden DR; Møller RS; Rubboli G
    Brain; 2021 Dec; 144(12):3635-3650. PubMed ID: 34114611
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Idiopathic focal epilepsies: the "lost tribe".
    Pal DK; Ferrie C; Addis L; Akiyama T; Capovilla G; Caraballo R; de Saint-Martin A; Fejerman N; Guerrini R; Hamandi K; Helbig I; Ioannides AA; Kobayashi K; Lal D; Lesca G; Muhle H; Neubauer BA; Pisano T; Rudolf G; Seegmuller C; Shibata T; Smith A; Striano P; Strug LJ; Szepetowski P; Valeta T; Yoshinaga H; Koutroumanidis M
    Epileptic Disord; 2016 Sep; 18(3):252-88. PubMed ID: 27435520
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
    Yang H; Liao H; Gan S; Xiao T; Wu L
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1967. PubMed ID: 35638461
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Study on concordance of ictal and interictal epileptiform activity in patients with tuberous sclerosis complex].
    Yang Z; Guo Q; Zhuang J; Liu X; Xiong H; Wu Y; Wang S; Chang X; Zhang Y; Bao X; Jiang Y; Qin J
    Zhonghua Er Ke Za Zhi; 2014 Apr; 52(4):292-7. PubMed ID: 24915918
    [TBL] [Abstract][Full Text] [Related]  

  • 18. EEG and clinical characteristics of neonatal parechovirus encephalitis.
    Sirsi D; Lowden A; Dolce A; Machie M; Thomas J; Joshi C
    Epilepsy Res; 2023 May; 192():107143. PubMed ID: 37084674
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.
    Cani I; Pondrelli F; Licchetta L; Minardi R; Giangregorio T; Mostacci B; Muccioli L; Di Vito L; Fetta A; Barba C; Castioni CA; Bordugo A; Tinuper P; Bisulli F
    Epilepsia Open; 2022 Dec; 7(4):810-816. PubMed ID: 35869793
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
    Ye YZ; Duan J; Hu ZQ; Cao DZ; Liao JX; Chen L
    Zhonghua Er Ke Za Zhi; 2022 Jun; 60(6):583-587. PubMed ID: 35658367
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.