Last Posted: Aug 27, 2019
- [Pay attention to rare diseases of the genetic counseling in deafness].
Wang Q J et al. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2019 Sep 33(9) 799-803 - Genetic screening in a large Chinese cohort of childhood onset hypoparathyroidism by next-generation sequencing combined with TBX1-MLPA.
Wang Yabing et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 Aug - Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.
He Longxia et al. Scientific reports 2017 7(1) 11355 - A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.
Shearer A Eliot et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun - Genetic testing and eHealth usage among Deaf women.
Kushalnagar Poorna et al. Journal of genetic counseling 2019 Jun - New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li Wu et al. Neural plasticity 2019 20197143458 - Noninvasive and Accurate Detection of Hereditary Hearing Loss Mutations with Buccal Swab Based on Droplet Digital PCR.
Wang Fang et al. Analytical chemistry 2018 90(15) 8919-8926 - Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.
Yang Tao et al. Advances in experimental medicine and biology 2019 113073-92 - Genetic screening involving 101 hot spots for neonates not passing newborn hearing screening and those random recruited in Dongguan.
Liu Yanhui et al. International journal of pediatric otorhinolaryngology 2019 Feb 11782-87 - Concurrent Hearing, Genetic, and Cytomegalovirus Screening in Newborns, Taiwan.
Lu Chun-Yi et al. The Journal of pediatrics 2018 199144-150.e1
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