Last Posted: Oct 03, 2019
- Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Dai Pu et al. American journal of human genetics 2019 Sep - Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Yongyi et al. European journal of human genetics : EJHG 2019 Sep - Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.
Zou Songfeng et al. Clinical genetics 2019 Sep - Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1 -mediated Paget's disease of bone.
Cronin Owen et al. BMJ open 2019 Sep 9(9) e030689 - [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
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