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Personalized Medicine
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May 13, 2018
Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes
Amy Knight Johnson, Daniela Del Gaudio
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 21, 2020
Response to Mounts and Besser
Gordana Raca, Marwan Shinawi, Daniela Del Gaudio, et al.
Genetics in Medicine Open
|
January 17, 2025
Applications of genome sequencing as a single platform for clinical constitutional genetic testing
Yao Yang, Daniela Del Gaudio, Avni Santani, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome
Amy Knight Johnson, Gerald Bradley Schaefer, Jennifer Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 17, 2020
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
Daniela Del Gaudio, Marwan Shinawi, Caroline Astbury, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
March 5, 2026
Investigating Genetic Risk to Oxaliplatin-Induced Sinusoidal Obstruction Syndrome in Colorectal Cancer Through Routinely Available NGS Data
Mengxue Zhang, Peng Wang, Yang Kong, et al.
Journal of Clinical Neuromuscular Disease
|
June 3, 2010
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype
Sailaja Golla, Satish Agadi, Dennis K Burns, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2008
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
Nicola Brunetti-Pierri, Daniela Del Gaudio, Hartmut Peters, et al.
The Journal of Pathology. Clinical Research
|
November 23, 2023
A novel telomere biology disease-associated gastritis identified through a whole exome sequencing-driven approach
Namrata Setia, Daniela Del Gaudio, Priscilla Kandikatla, et al.
Journal of the Endocrine Society
|
March 3, 2022
Novel <i>KDM6A</i> Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
Maria V Salguero, Karen Chan, Siri Atma W Greeley, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 55) with videos related to
Sort By:
Page
of 6
Personalized Medicine
|
May 13, 2018
Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes
Amy Knight Johnson, Daniela Del Gaudio
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 21, 2020
Response to Mounts and Besser
Gordana Raca, Marwan Shinawi, Daniela Del Gaudio, et al.
Genetics in Medicine Open
|
January 17, 2025
Applications of genome sequencing as a single platform for clinical constitutional genetic testing
Yao Yang, Daniela Del Gaudio, Avni Santani, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome
Amy Knight Johnson, Gerald Bradley Schaefer, Jennifer Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 17, 2020
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
Daniela Del Gaudio, Marwan Shinawi, Caroline Astbury, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|
March 5, 2026
Investigating Genetic Risk to Oxaliplatin-Induced Sinusoidal Obstruction Syndrome in Colorectal Cancer Through Routinely Available NGS Data
Mengxue Zhang, Peng Wang, Yang Kong, et al.
Journal of Clinical Neuromuscular Disease
|
June 3, 2010
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype
Sailaja Golla, Satish Agadi, Dennis K Burns, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2008
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
Nicola Brunetti-Pierri, Daniela Del Gaudio, Hartmut Peters, et al.
The Journal of Pathology. Clinical Research
|
November 23, 2023
A novel telomere biology disease-associated gastritis identified through a whole exome sequencing-driven approach
Namrata Setia, Daniela Del Gaudio, Priscilla Kandikatla, et al.
Journal of the Endocrine Society
|
March 3, 2022
Novel <i>KDM6A</i> Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
Maria V Salguero, Karen Chan, Siri Atma W Greeley, et al.
Page
of 6