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 *

172 related articles for article (PubMed ID: 36951206)

  • 61. The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome.
    Brodsky G; Barnes T; Bleskan J; Becker L; Cox M; Patterson D
    Hum Mol Genet; 1997 Nov; 6(12):2043-50. PubMed ID: 9328467
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Expanding the clinical phenotype of IARS2-related mitochondrial disease.
    Vona B; Maroofian R; Bellacchio E; Najafi M; Thompson K; Alahmad A; He L; Ahangari N; Rad A; Shahrokhzadeh S; Bahena P; Mittag F; Traub F; Movaffagh J; Amiri N; Doosti M; Boostani R; Shirzadeh E; Haaf T; Diodato D; Schmidts M; Taylor RW; Karimiani EG
    BMC Med Genet; 2018 Nov; 19(1):196. PubMed ID: 30419932
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.
    Bjørsum-Meyer T; Herlin M; Qvist N; Petersen MB
    J Med Case Rep; 2016 Dec; 10(1):374. PubMed ID: 28003020
    [TBL] [Abstract][Full Text] [Related]  

  • 64. A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas.
    Cirstoiu M; Munteanu O; Bodean O; Cirstoiu C
    J Med Life; 2013 Mar; 6(1):93-6. PubMed ID: 23599829
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.
    Muthukumar N
    J Pediatr Neurosci; 2015; 10(2):127-32. PubMed ID: 26167215
    [TBL] [Abstract][Full Text] [Related]  

  • 66.
    Saida K; Fukuda T; Scott DA; Sengoku T; Ogata K; Nicosia A; Hernandez-Garcia A; Lalani SR; Azamian MS; Streff H; Liu P; Dai H; Mizuguchi T; Miyatake S; Asahina M; Ogata T; Miyake N; Matsumoto N
    Front Cell Dev Biol; 2021; 9():631428. PubMed ID: 33748114
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report.
    Yilmaz MB; Kaymak A; Kurt G; Percin FE; Baykaner K
    Turk Neurosurg; 2013; 23(2):256-9. PubMed ID: 23546915
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.
    Hu L; Ibrahim K; Stucki M; Frapolli M; Shahbeck N; Chaudhry FA; Görg B; Häussinger D; Penberthy WT; Ben-Omran T; Häberle J
    J Inherit Metab Dis; 2015 Nov; 38(6):1075-83. PubMed ID: 25896882
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
    Zeidler C; Woelfle J; Draaken M; Mughal SS; Große G; Hilger AC; Dworschak GC; Boemers TM; Jenetzky E; Zwink N; Lacher M; Schmidt D; Schmiedeke E; Grasshoff-Derr S; Märzheuser S; Holland-Cunz S; Schäfer M; Bartels E; Keppler K; Palta M; Leonhardt J; Kujath C; Rißmann A; Nöthen MM; Reutter H; Ludwig M
    Birth Defects Res A Clin Mol Teratol; 2014 Oct; 100(10):750-9. PubMed ID: 25131394
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Bi-allelic loss of function variants of
    Otomo N; Takeda K; Kawai S; Kou I; Guo L; Osawa M; Alev C; Kawakami N; Miyake N; Matsumoto N; Yasuhiko Y; Kotani T; Suzuki T; Uno K; Sudo H; Inami S; Taneichi H; Shigematsu H; Watanabe K; Yonezawa I; Sugawara R; Taniguchi Y; Minami S; Kaneko K; Nakamura M; Matsumoto M; Toguchida J; Watanabe K; Ikegawa S
    J Med Genet; 2019 Sep; 56(9):622-628. PubMed ID: 31015262
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
    Bouman A; Waisfisz Q; Admiraal J; van de Loo M; van Rijn RR; Micha D; Oostra RJ; Mathijssen IB
    Am J Med Genet A; 2018 May; 176(5):1216-1221. PubMed ID: 29681102
    [TBL] [Abstract][Full Text] [Related]  

  • 72. The reported human NADsyn2 is ammonia-dependent NAD synthetase from a pseudomonad.
    Bieganowski P; Brenner C
    J Biol Chem; 2003 Aug; 278(35):33056-9. PubMed ID: 12777395
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Crystallization of NAD+ synthetase from Bacillus subtilis.
    Rizzi M; Nessi C; Bolognesi M; Coda A; Galizzi A
    Proteins; 1996 Oct; 26(2):236-8. PubMed ID: 8916230
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia.
    Basaran A; Deren O; Onderoğlu LS
    Am J Perinatol; 2010 Mar; 27(3):189-92. PubMed ID: 19634089
    [TBL] [Abstract][Full Text] [Related]  

  • 75. NAD metabolic dependency in cancer is shaped by gene amplification and enhancer remodelling.
    Chowdhry S; Zanca C; Rajkumar U; Koga T; Diao Y; Raviram R; Liu F; Turner K; Yang H; Brunk E; Bi J; Furnari F; Bafna V; Ren B; Mischel PS
    Nature; 2019 May; 569(7757):570-575. PubMed ID: 31019297
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
    Knerr I; Colombo R; Urquhart J; Morais A; Merinero B; Oyarzabal A; Pérez B; Jones SA; Perveen R; Preece MA; Rogers Y; Treacy EP; Mayne P; Zampino G; MacKinnon S; Wassmer E; Yue WW; Robinson I; Rodríguez-Pombo P; Olpin SE; Banka S
    J Inherit Metab Dis; 2019 Sep; 42(5):809-817. PubMed ID: 31177572
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
    Yesodharan D; Krishnan V; Nair IR; Ganapathy A; Mannan AU; Nampoothiri S
    Am J Med Genet A; 2021 Feb; 185(2):620-624. PubMed ID: 33179409
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency.
    Van Bergen NJ; Walvekar AS; Patraskaki M; Sikora T; Linster CL; Christodoulou J
    J Inherit Metab Dis; 2022 Nov; 45(6):1028-1038. PubMed ID: 35866541
    [TBL] [Abstract][Full Text] [Related]  

  • 79. A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
    Banka S; Newman WG
    Orphanet J Rare Dis; 2013 Jun; 8():84. PubMed ID: 23758768
    [TBL] [Abstract][Full Text] [Related]  

  • 80.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.