Connection

CARLOS BACINO to Young Adult

This is a "connection" page, showing publications CARLOS BACINO has written about Young Adult.
Connection Strength

0.169
  1. Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am J Med Genet A. 2009 Sep; 149A(9):1916-21.
    View in: PubMed
    Score: 0.031
  2. Developmental milestones and daily living skills in individuals with Angelman syndrome. J Neurodev Disord. 2024 Jun 15; 16(1):32.
    View in: PubMed
    Score: 0.022
  3. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
    View in: PubMed
    Score: 0.021
  4. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
    View in: PubMed
    Score: 0.016
  5. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
    View in: PubMed
    Score: 0.016
  6. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
    View in: PubMed
    Score: 0.015
  7. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
    View in: PubMed
    Score: 0.013
  8. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78.
    View in: PubMed
    Score: 0.011
  9. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
    View in: PubMed
    Score: 0.008
  10. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010 Apr; 18(4):429-35.
    View in: PubMed
    Score: 0.008
  11. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
    View in: PubMed
    Score: 0.007
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.