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Movement Disorders Clinical Practice
|
January 26, 2023
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
Markey C McNutt, Nathan Foreman, Garrett Gotway
JAMA Neurology
|
May 14, 2014
Diagnostic yield of clinical next-generation sequencing panels for epilepsy
Jason Wang, Garrett Gotway, Juan M Pascual, et al.
Pediatric Nephrology (Berlin, Germany)
|
December 2, 2021
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency
William D Wood, Ayah Elmaghrabi, Garrett Gotway, et al.
JAMA Network Open
|
April 30, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy
Jeffrey A SoRelle, Juan M Pascual, Garrett Gotway, et al.
JAMA Neurology
|
December 15, 2015
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy
Deepali Eksambe, Nnenna Agim, Naseem Uddin, et al.
Spine Deformity
|
December 9, 2016
Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis
Xiaochong Gao, Garrett Gotway, Karl Rathjen, et al.
JAMA Pediatrics
|
November 7, 2018
Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients
Jeffrey A SoRelle, Drew M Thodeson, Susan Arnold, et al.
The Journal of Pediatrics
|
May 18, 2020
Reinterpretation of Chromosomal Microarrays with Detailed Medical History
Midhat S Farooqi, Shirelle Figueroa, Garrett Gotway, et al.
Molecular Genetics and Metabolism
|
November 4, 2015
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency
Stefan Stender, Rima S Chakrabarti, Chao Xing, et al.
Cytogenetic and Genome Research
|
September 6, 2019
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay
Prabakaran Paulraj, Michelle Bosworth, Maria Longhurst, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
Movement Disorders Clinical Practice
|
January 26, 2023
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
Markey C McNutt, Nathan Foreman, Garrett Gotway
JAMA Neurology
|
May 14, 2014
Diagnostic yield of clinical next-generation sequencing panels for epilepsy
Jason Wang, Garrett Gotway, Juan M Pascual, et al.
Pediatric Nephrology (Berlin, Germany)
|
December 2, 2021
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency
William D Wood, Ayah Elmaghrabi, Garrett Gotway, et al.
JAMA Network Open
|
April 30, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy
Jeffrey A SoRelle, Juan M Pascual, Garrett Gotway, et al.
JAMA Neurology
|
December 15, 2015
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy
Deepali Eksambe, Nnenna Agim, Naseem Uddin, et al.
Spine Deformity
|
December 9, 2016
Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis
Xiaochong Gao, Garrett Gotway, Karl Rathjen, et al.
JAMA Pediatrics
|
November 7, 2018
Clinical Utility of Reinterpreting Previously Reported Genomic Epilepsy Test Results for Pediatric Patients
Jeffrey A SoRelle, Drew M Thodeson, Susan Arnold, et al.
The Journal of Pediatrics
|
May 18, 2020
Reinterpretation of Chromosomal Microarrays with Detailed Medical History
Midhat S Farooqi, Shirelle Figueroa, Garrett Gotway, et al.
Molecular Genetics and Metabolism
|
November 4, 2015
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency
Stefan Stender, Rima S Chakrabarti, Chao Xing, et al.
Cytogenetic and Genome Research
|
September 6, 2019
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay
Prabakaran Paulraj, Michelle Bosworth, Maria Longhurst, et al.
Page
of 2