Genetics in Medicine
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Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

DNA methylation episignature in Gabriele-de Vries syndrome

2022 ◽  
Author(s):  
Florian Cherik ◽  
Jack Reilly ◽  
Jennifer Kerkhof ◽  
Michael Levy ◽  
Haley McConkey ◽  
...  
Keyword(s):  
Dna Methylation ◽  
De Vries

scholarly journals Biallelic p.V37I variant in GJB2 is associated with increasing incidence of hearing loss with age

2022 ◽  
Author(s):  
Ying Chen ◽  
Zhili Wang ◽  
Yi Jiang ◽  
Yun Lin ◽  
Xueling Wang ◽  
...  
Keyword(s):  
Hearing Loss

TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

2022 ◽  
Author(s):  
Silvia Radenkovic ◽  
Diego Martinelli ◽  
Yuebo Zhang ◽  
Graeme J. Preston ◽  
Arianna Maiorana ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Disorder ◽  
Dysmorphic Features ◽  
Congenital Disorder Of Glycosylation

Testing and extending strategies for identifying genetic disease–related encounters in pediatric patients

2022 ◽  
Author(s):  
Lisa P. Spees ◽  
Karen Hicklin ◽  
Michael C. Adams ◽  
Laura Farnan ◽  
Jeannette T. Bensen ◽  
...  
Keyword(s):  
Genetic Disease ◽  
Pediatric Patients

scholarly journals Genetic Determinants of Sudden Unexpected Death in Pediatrics

2022 ◽  
Author(s):  
Hyun Yong Koh ◽  
Alireza Haghighi ◽  
Christine Keywan ◽  
Sanda Alexandrescu ◽  
Erin Plews-Ogan ◽  
...  
Keyword(s):  
Sudden Unexpected Death ◽  
Genetic Determinants ◽  
Unexpected Death

scholarly journals Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

2022 ◽  
Author(s):  
Nicholas Owen ◽  
Maria Toms ◽  
Rodrigo M. Young ◽  
Jonathan Eintracht ◽  
Hajrah Sarkar ◽  
...  
Keyword(s):  
Gene Analysis

Increasing inclusivity in precision medicine research: Views of individuals who are deaf and hard of hearing

2021 ◽  
Author(s):  
Diana C. Garofalo ◽  
Howard A. Rosenblum ◽  
Yuan Zhang ◽  
Ying Chen ◽  
Paul S. Appelbaum ◽  
...  
Keyword(s):  
Precision Medicine ◽  
Hard Of Hearing ◽  
Medicine Research ◽  
Precision Medicine Research
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