Connection

DAVUT PEHLIVAN to Intracellular Signaling Peptides and Proteins

This is a "connection" page, showing publications DAVUT PEHLIVAN has written about Intracellular Signaling Peptides and Proteins.
  1. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 07; 188(7):2153-2161.
    View in: PubMed
    Score: 0.157
  2. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
    View in: PubMed
    Score: 0.091
  3. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
    View in: PubMed
    Score: 0.088
  4. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394.
    View in: PubMed
    Score: 0.088
  5. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515.
    View in: PubMed
    Score: 0.042
  6. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
    View in: PubMed
    Score: 0.040
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.