Last Posted: Aug 21, 2019
- Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
Oldak Monika et al. Journal of translational medicine 2019 Aug 17(1) 269 - Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner.
Ringer Jonathan et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2019 Jul - Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Rabin Rachel et al. American journal of medical genetics. Part A 2019 Jul - Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo Christine et al. International journal of audiology 2019 Jul 1-17 - Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.
He Longxia et al. Scientific reports 2017 7(1) 11355 - Genetic Screening of the Usher Syndrome in Cuba.
Santana Elayne E et al. Frontiers in genetics 2019 10501 - Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
Yang Lulu et al. BMC medical genetics 2018 19(1) 212 - Genetic testing for congenital non-syndromic sensorineural hearing loss.
Raymond Mallory et al. International journal of pediatric otorhinolaryngology 2019 May 12468-75 - Predicting cochlear dead regions in patients with hearing loss through a machine learning-based approach: A preliminary study.
Chang Young-Soo et al. PloS one 2019 14(6) e0217790 - Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
Y Sun et al, BMC Medical Genomics, May 2019
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