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 *

138 related articles for article (PubMed ID: 35418828)

  • 61. Identification of a rare homozygous
    Imaizumi T; Kumakura A; Yamamoto-Shimojima K; Ondo Y; Yamamoto T
    Intractable Rare Dis Res; 2018 Nov; 7(4):245-250. PubMed ID: 30560016
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Case Report: Exome and RNA Sequencing Identify a Novel
    Pan X; Liu S; Liu L; Zhang X; Yao H; Tan B
    Front Genet; 2022; 13():853028. PubMed ID: 35422839
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Case report: Functional analysis of the p.Arg507Trp variant of the
    Ben Ayed I; Jallouli O; Murakami Y; Souissi A; Mallouli S; Bouzid A; Kamoun F; Elloumi I; Frikha F; Tlili A; Weckhuysen S; Kinoshita T; Triki CC; Masmoudi S
    Front Neurol; 2023; 14():1092887. PubMed ID: 36970549
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
    Andelman-Gur MM; Saitsu H; Matsumoto N; Spiegel R; Yosovich K; Lev D; Lerman-Sagie T; Blumkin L
    Eur J Med Genet; 2020 Dec; 63(12):104061. PubMed ID: 32890691
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
    Fleming L; Lemmon M; Beck N; Johnson M; Mu W; Murdock D; Bodurtha J; Hoover-Fong J; Cohn R; Bosemani T; Barañano K; Hamosh A
    Am J Med Genet A; 2016 Jan; 170A(1):77-86. PubMed ID: 26394714
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Case report : a novel ASXL3 gene variant in a Sudanese boy.
    Wu K; Cong Y
    BMC Pediatr; 2021 Dec; 21(1):557. PubMed ID: 34886823
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Expanding the Clinical Spectrum of
    Hannah-Shmouni F; MacNeil L; Brady L; Nilsson MI; Tarnopolsky M
    Front Neurol; 2019; 10():981. PubMed ID: 31636596
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
    Amos JS; Huang L; Thevenon J; Kariminedjad A; Beaulieu CL; Masurel-Paulet A; Najmabadi H; Fattahi Z; Beheshtian M; Tonekaboni SH; Tang S; Helbig KL; Alcaraz W; Rivière JB; Faivre L; Innes AM; Lebel RR; Boycott KM;
    Clin Genet; 2017 Jan; 91(1):92-99. PubMed ID: 27102954
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities.
    Wang H; Liu J; Li F; Teng Z; Liu M; Gu W
    Front Genet; 2022; 13():859140. PubMed ID: 35518358
    [No Abstract]   [Full Text] [Related]  

  • 70. [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
    Shen YW; Weng ZF; He W; Chen YH; Wang QH; Zou LP; Liu LY; Shang-Guan HK
    Zhonghua Er Ke Za Zhi; 2020 Dec; 58(12):1006-1012. PubMed ID: 33256324
    [No Abstract]   [Full Text] [Related]  

  • 71. Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family.
    Razmara E; Azimi H; Tavasoli AR; Fallahi E; Sheida SV; Eidi M; Bitaraf A; Farjami Z; Daneshmand MA; Garshasbi M
    Eur J Med Genet; 2020 Dec; 63(12):104096. PubMed ID: 33186761
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Bainbridge-Ropers Syndrome in a Texan Boy: A Case Report and Review of the Literature.
    Siu Xiao T; Colombari Arce G; Rojas Marron A; Benitez GA; Schwanecke R
    Cureus; 2022 Dec; 14(12):e32902. PubMed ID: 36699804
    [TBL] [Abstract][Full Text] [Related]  

  • 73. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
    Zaki MS; Bhat G; Sultan T; Issa M; Jung HJ; Dikoglu E; Selim L; G Mahmoud I; Abdel-Hamid MS; Abdel-Salam G; Marin-Valencia I; Gleeson JG
    Ann Neurol; 2016 Jul; 80(1):59-70. PubMed ID: 27130255
    [TBL] [Abstract][Full Text] [Related]  

  • 74. PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
    Pavone P; Corsello G; Cho SY; Pappalardo XG; Ruggieri M; Marino SD; Jin DK; Marino S; Falsaperla R
    Ital J Pediatr; 2019 Dec; 45(1):159. PubMed ID: 31801583
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
    Bi W; Glass IA; Muzny DM; Gibbs RA; Eng CM; Yang Y; Sun A
    Am J Med Genet A; 2016 Aug; 170(8):2181-5. PubMed ID: 27170158
    [TBL] [Abstract][Full Text] [Related]  

  • 76. A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
    Cabet S; Putoux A; Carneiro M; Labalme A; Sanlaville D; Guibaud L; Lesca G
    Eur J Med Genet; 2019 Oct; 62(10):103726. PubMed ID: 31319223
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
    DesRoches CL; Bruun T; Wang P; Marshall CR; Mercimek-Mahmutoglu S
    Hum Mutat; 2016 Sep; 37(9):926-32. PubMed ID: 27233232
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
    Vernon HJ; McClellan R; Batista DA; Naidu S
    Am J Med Genet A; 2015 May; 167A(5):1147-51. PubMed ID: 25851414
    [TBL] [Abstract][Full Text] [Related]  

  • 79. New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
    Mah-Som AY; Skrypnyk C; Guerin A; Seroor Jadah RH; Vardhan VN; McKinstry RC; Shinawi MS
    Neurol Genet; 2021 Feb; 7(1):e553. PubMed ID: 33977139
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
    Gholizadeh MA; Mohammadi-Sarband M; Fardanesh F; Garshasbi M
    BMC Med Genomics; 2022 Apr; 15(1):78. PubMed ID: 35379233
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.