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Rachel Palmquist

Showing results (1-10 of 20) with videos related to

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Epilepsia Open|August 26, 2025
Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsyTatum Vilaboy, Kristen Wong, Martin Tristani-Firouzi, et al.
Clinical Case Reports|April 15, 2022
On the edge-A diagnostic odysseyHailey McLean, Rachel Palmquist, Lincoln D Nadauld, et al.
The Journal of Pediatrics|June 3, 2023
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver DysfunctionDanielle Bonser, Sabrina Malone Jenkins, Rachel Palmquist, et al.
Epilepsia Open|October 28, 2024
Factors impacting time to genetic diagnosis for children with epilepsyMegan Rimmasch, Carey A Wilson, Nephi A Walton, et al.
International Journal of Neonatal Screening|November 21, 2023
Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory PerspectiveJulia Prinzi, Marzia Pasquali, Judith A Hobert, et al.
Cold Spring Harbor Molecular Case Studies|August 16, 2023
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failureDana R Tower, Ronald W Day, Tighe Marrone, et al.
Pediatric Research|January 17, 2025
Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologiesSabrina Malone Jenkins, Rachel Palmquist, Brian J Shayota, et al.
Journal of Community Genetics|March 21, 2025
Identifying characteristics associated with genetic testing in the NICUMadison Rumsey, Sabrina Malone-Jenkins, Rachel Palmquist, et al.
Clinical Case Reports|January 26, 2023
A novel <i>RAD51</i> variant resulting in Fanconi anemia identified in an infant with multiple congenital anomaliesShelby Geilmann, Rachel Solstad, Rachel Palmquist, et al.
Journal of Child Neurology|September 11, 2024
Pediatric Epilepsy Genetic Testing Results and Long-term Seizure FreedomAmanda G Sandoval Karamian, Monika Baker, Rachel Palmquist, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Epilepsia Open|August 26, 2025
Investigating the frequency of unreported cases and laboratory correspondence practices for variants of uncertain significance in pediatric epilepsyTatum Vilaboy, Kristen Wong, Martin Tristani-Firouzi, et al.
Clinical Case Reports|April 15, 2022
On the edge-A diagnostic odysseyHailey McLean, Rachel Palmquist, Lincoln D Nadauld, et al.
The Journal of Pediatrics|June 3, 2023
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver DysfunctionDanielle Bonser, Sabrina Malone Jenkins, Rachel Palmquist, et al.
Epilepsia Open|October 28, 2024
Factors impacting time to genetic diagnosis for children with epilepsyMegan Rimmasch, Carey A Wilson, Nephi A Walton, et al.
International Journal of Neonatal Screening|November 21, 2023
Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory PerspectiveJulia Prinzi, Marzia Pasquali, Judith A Hobert, et al.
Cold Spring Harbor Molecular Case Studies|August 16, 2023
Rapid genome diagnosis of alveolar capillary dysplasia leading to treatment in a child with respiratory and cardiac failureDana R Tower, Ronald W Day, Tighe Marrone, et al.
Pediatric Research|January 17, 2025
Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologiesSabrina Malone Jenkins, Rachel Palmquist, Brian J Shayota, et al.
Journal of Community Genetics|March 21, 2025
Identifying characteristics associated with genetic testing in the NICUMadison Rumsey, Sabrina Malone-Jenkins, Rachel Palmquist, et al.
Clinical Case Reports|January 26, 2023
A novel <i>RAD51</i> variant resulting in Fanconi anemia identified in an infant with multiple congenital anomaliesShelby Geilmann, Rachel Solstad, Rachel Palmquist, et al.
Journal of Child Neurology|September 11, 2024
Pediatric Epilepsy Genetic Testing Results and Long-term Seizure FreedomAmanda G Sandoval Karamian, Monika Baker, Rachel Palmquist, et al.
Pageof 2