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 *

166 related articles for article (PubMed ID: 38923322)

  • 21. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
    Torraco A; Stehling O; Stümpfig C; Rösser R; De Rasmo D; Fiermonte G; Verrigni D; Rizza T; Vozza A; Di Nottia M; Diodato D; Martinelli D; Piemonte F; Dionisi-Vici C; Bertini E; Lill R; Carrozzo R
    Hum Mol Genet; 2018 Aug; 27(15):2739-2754. PubMed ID: 29767723
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Clinical analysis of one infantile nephrotic syndrome caused by COQ2 gene mutation and literature review].
    Xu K; Mao XY; Yao Y; Cheng H; Zhang XJ
    Zhonghua Er Ke Za Zhi; 2018 Sep; 56(9):662-666. PubMed ID: 30180404
    [No Abstract]   [Full Text] [Related]  

  • 23. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
    Piro E; Serra G; Antona V; Giuffrè M; Giorgio E; Sirchia F; Schierz IAM; Brusco A; Corsello G
    Ital J Pediatr; 2020 Sep; 46(1):140. PubMed ID: 32972427
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation].
    Tang YL; Peng J; Xiong J; Pang N; Wu LW; Yang HY; Kessi M; Yin F
    Zhonghua Er Ke Za Zhi; 2018 Nov; 56(11):829-834. PubMed ID: 30392207
    [No Abstract]   [Full Text] [Related]  

  • 25. Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing.
    Zhu L; Wu R; Ye Z; Gu R; Wang Y; Hou Y; Feng Z; Ma X
    J Pediatr Endocrinol Metab; 2019 Mar; 32(3):295-300. PubMed ID: 30789823
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Primary coenzyme Q10 deficiency-7: a case report and literature review].
    Chen XR; Xu JP; Yao YH
    Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):928-932. PubMed ID: 33120466
    [No Abstract]   [Full Text] [Related]  

  • 27. [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].
    Yang P; Zeng CZ; Tao XW; Rong SW; Long Y; Zeng LK
    Zhonghua Er Ke Za Zhi; 2024 Jan; 62(1):43-48. PubMed ID: 38154976
    [No Abstract]   [Full Text] [Related]  

  • 28. [A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature].
    Duan HL; Peng J; Pang N; Chen SM; Xiong J; Guang SQ; Yin F
    Zhonghua Er Ke Za Zhi; 2019 May; 57(5):368-372. PubMed ID: 31060130
    [No Abstract]   [Full Text] [Related]  

  • 29. Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.
    Sonuç Kartal G; Koç Yekedüz M; Köse E; Eminoğlu FT
    J Pediatr Endocrinol Metab; 2024 Mar; 37(3):260-270. PubMed ID: 38353291
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
    Lebigot E; Schiff M; Golinelli-Cohen MP
    Biomedicines; 2021 Aug; 9(8):. PubMed ID: 34440194
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
    Khalifa M; Naffaa L
    Eur J Med Genet; 2015 Aug; 58(8):381-6. PubMed ID: 26096995
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
    Cohen I; Staretz-Chacham O; Wormser O; Perez Y; Saada A; Kadir R; Birk OS
    Am J Med Genet A; 2018 Feb; 176(2):330-336. PubMed ID: 29226520
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [A family with early onset myopathy caused by MEGF10 gene defect and literature review].
    Lin YF; Wu XY; Yang L; Cheng GQ; Huang Y; Zhuang DY
    Zhonghua Er Ke Za Zhi; 2023 Mar; 61(3):261-265. PubMed ID: 36849355
    [No Abstract]   [Full Text] [Related]  

  • 34. [3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].
    Zhu H; Bao X; Zhang Y
    Zhonghua Er Ke Za Zhi; 2015 Aug; 53(8):626-30. PubMed ID: 26717663
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.
    Fattal-Valevski A; Kesler A; Sela BA; Nitzan-Kaluski D; Rotstein M; Mesterman R; Toledano-Alhadef H; Stolovitch C; Hoffmann C; Globus O; Eshel G
    Pediatrics; 2005 Feb; 115(2):e233-8. PubMed ID: 15687431
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
    Mai JH; Ou ZH; Chen L; Duan J; Liao JX; Han CX
    Zhonghua Er Ke Za Zhi; 2020 Oct; 58(10):833-837. PubMed ID: 32987464
    [No Abstract]   [Full Text] [Related]  

  • 37. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy.
    Nikam RM; Gripp KW; Choudhary AK; Kandula V
    Am J Med Genet A; 2018 Dec; 176(12):2787-2790. PubMed ID: 30302924
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
    Toldo I; Nosadini M; Boscardin C; Talenti G; Manara R; Lamantea E; Legati A; Ghezzi D; Perilongo G; Sartori S
    Metab Brain Dis; 2018 Jun; 33(3):805-812. PubMed ID: 29359243
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.
    Stutterd CA; Lake NJ; Peters H; Lockhart PJ; Taft RJ; van der Knaap MS; Vanderver A; Thorburn DR; Simons C; Leventer RJ
    JIMD Rep; 2019; 43():63-70. PubMed ID: 29654549
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
    Simon MT; Eftekharian SS; Stover AE; Osborne AF; Braffman BH; Chang RC; Wang RY; Steenari MR; Tang S; Hwu PW; Taft RJ; Benke PJ; Abdenur JE
    Mol Genet Metab; 2019 Jan; 126(1):53-63. PubMed ID: 30473481
    [TBL] [Abstract][Full Text] [Related]  

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