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Connection

Carmen Cadilla to Genetic Testing

This is a "connection" page, showing publications Carmen Cadilla has written about Genetic Testing.
Connection Strength

0.619
  1. Santiago Borrero PJ, Rodr?guez-P?rez Y, Renta JY, Izquierdo NJ, Del Fierro L, Mu?oz D, Molina NL, Ram?rez S, Pag?n-Mercado G, Ort?z I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90.
    View in: PubMed
    Score: 0.259
  2. Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.
    View in: PubMed
    Score: 0.233
  3. Rua?o G, Duconge J, Windemuth A, Cadilla CL, Kocherla M, Villagra D, Renta J, Holford T, Santiago-Borrero PJ. Physiogenomic analysis of the Puerto Rican population. Pharmacogenomics. 2009 Apr; 10(4):565-77.
    View in: PubMed
    Score: 0.081
  4. Mahadeo KM, Diop-Bove N, Ramirez SI, Cadilla CL, Rivera E, Martin M, Lerner NB, DiAntonio L, Duva S, Santiago-Borrero PJ, Goldman ID. Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. J Pediatr. 2011 Oct; 159(4):623-7.e1.
    View in: PubMed
    Score: 0.023
  5. Torres-Serrant M, Ramirez SI, Cadilla CL, Ramos-Valencia G, Santiago-Borrero PJ. Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. J Pediatr Hematol Oncol. 2010 Aug; 32(6):448-53.
    View in: PubMed
    Score: 0.022
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.
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