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Christina Peroutka

Showing results (1-10 of 8) with videos related to

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Pediatrics in Review|November 3, 2020
Gene TherapyChristina Peroutka, Joann Bodurtha
The Journal of Allergy and Clinical Immunology. in Practice|August 16, 2024
Yao syndrome in a child with C2 deficiencySamantha Cresoe-Ortiz, Geoffrey Hall, Rachel L Randell, et al.
Clinical Genetics|January 12, 2021
Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1Dong Li, Sarah E Sheppard, Christina Peroutka, et al.
Research Square|February 23, 2026
Biallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesiaSaurabh Kulkarni, Dana Urbatsch, Anburaj Jeyaraj, et al.
JIMD Reports|October 24, 2018
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase DeficiencyChristina Peroutka, Jacqueline Salas, Jacquelyn Britton, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesiaDana Urbatsch, Anburaj Jeyaraj, Shruti Bedekar, et al.
NPJ Genomic Medicine|June 5, 2026
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomesXiaonan Zhao, Robert Rigobello, Morgan Driver, et al.
American Journal of Human Genetics|January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorderGazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Pediatrics in Review|November 3, 2020
Gene TherapyChristina Peroutka, Joann Bodurtha
The Journal of Allergy and Clinical Immunology. in Practice|August 16, 2024
Yao syndrome in a child with C2 deficiencySamantha Cresoe-Ortiz, Geoffrey Hall, Rachel L Randell, et al.
Clinical Genetics|January 12, 2021
Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1Dong Li, Sarah E Sheppard, Christina Peroutka, et al.
Research Square|February 23, 2026
Biallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesiaSaurabh Kulkarni, Dana Urbatsch, Anburaj Jeyaraj, et al.
JIMD Reports|October 24, 2018
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase DeficiencyChristina Peroutka, Jacqueline Salas, Jacquelyn Britton, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesiaDana Urbatsch, Anburaj Jeyaraj, Shruti Bedekar, et al.
NPJ Genomic Medicine|June 5, 2026
Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomesXiaonan Zhao, Robert Rigobello, Morgan Driver, et al.
American Journal of Human Genetics|January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorderGazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
Pageof 1