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Results 11 - 20 of 56 for gene sequencing
  1. Erythrokeratodermia variabilis et progressiva 
    ... H, Mou Y, Zeng Q, Xiong X. Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. Australas J ...
    https://medlineplus.gov/...hrokeratodermia-variabilis-et-progressiva - Genetics
  2. Poikiloderma with neutropenia 
    ... R, Schoenmakers EF, Larizza L. Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet. 2010 Jan;86(1): ...
    https://medlineplus.gov/.../condition/poikiloderma-with-neutropenia - Genetics
  3. Cone-rod dystrophy 
    ... P, Guo X, Wang J, Zhang Q. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One. 2013 Jun 11;8(6):e65546. ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  4. TK2-related mitochondrial DNA depletion syndrome, myopathic form 
    ... building blocks (nucleotides) so that errors in mtDNA sequencing can be repaired and new mtDNA molecules can be produced.Mutations in the TK2 gene reduce the production or activity of thymidine kinase ...
    https://medlineplus.gov/...ial-dna-depletion-syndrome-myopathic-form - Genetics
  5. Miller syndrome 
    ... condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. ... Biesecker LG. Exome sequencing makes medical genomics a reality. Nat Genet. 2010 ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  6. Rubinstein-Taybi syndrome 
    ... T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, the chromosome ... G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
  7. Ellis-van Creveld syndrome 
    ... Wright MJ, Goodship JA. Mutations in two nonhomologous genes in a head-to-head ... MJ, Goodship JA. Sequencing EVC and EVC2 identifies mutations in two-thirds ...
    https://medlineplus.gov/.../condition/ellis-van-creveld-syndrome - Genetics
  8. Simpson-Golabi-Behmel syndrome 
    ... A. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel ... U. Whole exome sequencing and array-based molecular karyotyping as aids to ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  9. ACAD9 deficiency 
    ... by defective ACAD9: new function for an old gene. Brain. 2011 Jan;134(Pt ... Prokisch H. Exome sequencing identifies ACAD9 mutations as a cause of complex ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  10. Dystonia 16 
    ... Ke ZJ. dsRNA binding protein PACT/RAX in gene silencing, development and ... exome sequencing identifies PRKRA mutations in a European dystonia family. ...
    https://medlineplus.gov/genetics/condition/dystonia-16 - Genetics
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