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Chirag Patel

Showing results (311-320 of 318) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Kidney International Reports|August 19, 2024
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 YearsKushani Jayasinghe, Erik Biros, Trudie Harris, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
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Showing results (311-320 of 318) with videos related to

Sort By:
Pageof 32
You have reached the last page of results.This site can display upto 318 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Kidney International Reports|August 19, 2024
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 YearsKushani Jayasinghe, Erik Biros, Trudie Harris, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.
Brain : a Journal of Neurology|September 26, 2020
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaDarius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 32