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1 . Academic Journal
Early genetic testing in pediatric epilepsy: Diagnostic and cost implications
저자
by
Shanna M. Swartwood
;
Ana Morales
;
Kathryn E. Hatchell
;
Chad Moretz
;
Dianalee McKnight
, et al.
소스
Epilepsia Open, Vol 9, Iss 1, Pp 439-444 (2024)
Open Access (Wiley)
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7 . Academic Journal
P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program
저자
by
Nicole Miller
;
Heraclio Gutierrez
;
Omid Japalaghi
;
Laura Konczal
;
Deborah Marsden
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100907- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database
저자
by
Vanessa Rangel Miller
;
Heather Richbourg
;
Jerry Vockley
;
Omid Japalaghi
;
Moeenaldeen AlSayed
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100909- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
P222: TTN truncating variants are enriched in cardiomyopathy/arrhythmia and neuromuscular cases and M-band exon 358 contributes to primary cardiomyopathy/arrhythmia
저자
by
Ellen Regalado
;
Dan Swartzlander
;
Andrea Nagl
;
Meghan Mannello
;
Rachel Lewis
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101119- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
P633: Clinical and genetic findings of >3,900 individuals tested via the navigateAPDS sponsored genetic testing program
저자
by
Heather McLaughlin
;
Emily Campbell
;
Nami Park
;
Ana Morales
;
Brian Hartline
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101539- (2024)
Full Text (ScienceDirect)
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7 . Academic Journal
Aplicación de un programa de ahorro de sangre en cirugía cardiaca: análisis y resultados
저자
by
Evaristo Castedo
;
Paloma Martínez-Cabeza
;
Miguel Miró
;
María Cruz Martín-Delgado
;
Ana Sebrango
, et al.
소스
Cirugía Cardiovascular, Vol 30, Iss 1, Pp 17-23 (2023)
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7 . Academic Journal
Real-World Outcomes of Belantamab Mafodotin for Relapsed/Refractory Multiple Myeloma (RRMM): Preliminary Results of a Spanish Expanded Access Program (EAP)
저자
by
Adrián Alegre
;
Gonzalo Benzo
;
Rafael Alonso
;
Joaquín Martínez-López
;
Ana Jimenez-Ubieto
, et al.
소스
Oncology and Therapy, Vol 11, Iss 1, Pp 83-96 (2022)
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7 . Academic Journal
Evolving cardiovascular genetic counseling needs in the era of precision medicine
저자
by
Ana Morales
;
Jessica Goehringer
;
Despina Sanoudou
.
소스
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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5 . Academic Journal
P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations
저자
by
Britt Johnson
;
Ana Morales
;
Flavia Facio
;
Laure Fresard
;
Dianalee McKnight
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100537- (2023)
Full Text (ScienceDirect)
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7 . Academic Journal
P537: Reliability of clinician entries for patient self-identified race, ethnicity, and ancestry in clinical genetic testing
저자
by
Alice Popejoy
;
Ana Morales
;
Dianalee McKnight
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100584- (2023)
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