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Maria Laura Duque Lasio

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

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Matrix Biology : Journal of the International Society for Matrix Biology|March 5, 2018
Elastin-driven genetic diseasesMaria Laura Duque Lasio, Beth A Kozel
Genetics in Medicine Open|May 13, 2026
How to turn "minority tax" into "minority capital"Maria Laura Duque Lasio, John Paul Sánchez, Fabiola Quintero-Rivera
The Journal of Applied Laboratory Medicine|March 24, 2026
Delayed Diagnosis of a Rare Metabolic Disorder in AdulthoodIsaiah K Mensah, Angie Carreno Martinez, Taylor Wilson, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|October 23, 2019
Clinical and Pathological Features of a Newborn With Compound Heterozygous <i>ANKS6</i> VariantsSakil Kulkarni, Brooj Abro, Maria Laura Duque Lasio, et al.
Molecular Genetics and Metabolism|June 6, 2025
C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolismMaria Laura Duque Lasio, Maria Zaitsev, Judith A Hobert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Words matter: The language of difference in human geneticsMildred K Cho, Maria Laura Duque Lasio, Ina Amarillo, et al.
JIMD Reports|November 6, 2023
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Molecular Genetics and Metabolism|July 1, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ<sub>10</sub> deficiency: Hypomorphic variants and two distinct disease entitiesParith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe diseaseAdam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Pageof 1

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

Sort By:
Pageof 1
Matrix Biology : Journal of the International Society for Matrix Biology|March 5, 2018
Elastin-driven genetic diseasesMaria Laura Duque Lasio, Beth A Kozel
Genetics in Medicine Open|May 13, 2026
How to turn "minority tax" into "minority capital"Maria Laura Duque Lasio, John Paul Sánchez, Fabiola Quintero-Rivera
The Journal of Applied Laboratory Medicine|March 24, 2026
Delayed Diagnosis of a Rare Metabolic Disorder in AdulthoodIsaiah K Mensah, Angie Carreno Martinez, Taylor Wilson, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|October 23, 2019
Clinical and Pathological Features of a Newborn With Compound Heterozygous <i>ANKS6</i> VariantsSakil Kulkarni, Brooj Abro, Maria Laura Duque Lasio, et al.
Molecular Genetics and Metabolism|June 6, 2025
C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolismMaria Laura Duque Lasio, Maria Zaitsev, Judith A Hobert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Words matter: The language of difference in human geneticsMildred K Cho, Maria Laura Duque Lasio, Ina Amarillo, et al.
JIMD Reports|November 6, 2023
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerationsRodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, et al.
Molecular Genetics and Metabolism|July 1, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ<sub>10</sub> deficiency: Hypomorphic variants and two distinct disease entitiesParith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe diseaseAdam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Pageof 1