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BMC Neurology
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June 18, 2020
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
Andrew Ng, Serena Galosi, Lisa Salz, et al.
Cold Spring Harbor Molecular Case Studies
|
March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies
|
June 12, 2021
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency
Mallory J Owen, Jerica Lenberg, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism
|
October 13, 2012
Associations between maternal genotypes and metabolites implicated in congenital heart defects
Shimul Chowdhury, Charlotte A Hobbs, Stewart L MacLeod, et al.
The Journal of Molecular Diagnostics : JMD
|
September 4, 2024
Analytical Validation of an Early Detection Pancreatic Cancer Test Using 5-Hydroxymethylation Signatures
Shimul Chowdhury, Michael Kesling, Micah Collins, et al.
JAMA Pediatrics
|
February 12, 2014
Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics
Charlotte A Hobbs, Shimul Chowdhury, Mario A Cleves, et al.
NPJ Genomic Medicine
|
August 22, 2020
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
Kiely N James, Michelle M Clark, Brandon Camp, et al.
Cold Spring Harbor Molecular Case Studies
|
February 5, 2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system
Stephen F Kingsmore, Nanda Ramchandar, Kiely James, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2018
Heterozygous WNT1 variant causing a variable bone phenotype
Shatha Alhamdi, Yi-Chien Lee, Shimul Chowdhury, et al.
Pediatric Neurology
|
August 16, 2018
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome
Dillon Y Chen, Shimul Chowdhury, Lauge Farnaes, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 49) with videos related to
Sort By:
Page
of 5
BMC Neurology
|
June 18, 2020
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
Andrew Ng, Serena Galosi, Lisa Salz, et al.
Cold Spring Harbor Molecular Case Studies
|
March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections
Nathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies
|
June 12, 2021
Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency
Mallory J Owen, Jerica Lenberg, Annette Feigenbaum, et al.
Molecular Genetics and Metabolism
|
October 13, 2012
Associations between maternal genotypes and metabolites implicated in congenital heart defects
Shimul Chowdhury, Charlotte A Hobbs, Stewart L MacLeod, et al.
The Journal of Molecular Diagnostics : JMD
|
September 4, 2024
Analytical Validation of an Early Detection Pancreatic Cancer Test Using 5-Hydroxymethylation Signatures
Shimul Chowdhury, Michael Kesling, Micah Collins, et al.
JAMA Pediatrics
|
February 12, 2014
Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics
Charlotte A Hobbs, Shimul Chowdhury, Mario A Cleves, et al.
NPJ Genomic Medicine
|
August 22, 2020
Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
Kiely N James, Michelle M Clark, Brandon Camp, et al.
Cold Spring Harbor Molecular Case Studies
|
February 5, 2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system
Stephen F Kingsmore, Nanda Ramchandar, Kiely James, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2018
Heterozygous WNT1 variant causing a variable bone phenotype
Shatha Alhamdi, Yi-Chien Lee, Shimul Chowdhury, et al.
Pediatric Neurology
|
August 16, 2018
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome
Dillon Y Chen, Shimul Chowdhury, Lauge Farnaes, et al.
Page
of 5