E-LIB Suche - Ergebnisse für: Lasio, Laura Duque

1

P360: Phenotypic and molecular characterization of a cohort..:

Wongkittichote, Parith ; Lasio, Laura Duque ; Magistrati, Martina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100388 , 2023

Link: https://doi.org/10.1016/..

2

ANALYSIS OF URINE HEPARAN SULFATE AND ITS NON-REDUCING ENDS..:

Kaczmarczyk, Aneta ; Lasio, Laura Duque ; Viskochil, David...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 281-282 , 2022

Link: https://doi.org/10.1016/..

3

The G78D variant in IDUA – a potential hypomorphic variant ..:

Peck, Dawn ; Hall, Patricia ; Hamm, J. Austin...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108339 , 2024

Link: https://doi.org/10.1016/..

4

Variant reclassification with functional study in a biochem..:

Pajouhanfar, Sara ; Lasio, Maria Laura Duque ; Lee, Angela...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108298 , 2024

Link: https://doi.org/10.1016/..

5

Clinical, biochemical and molecular characterization of 12 ..:

Lasio, M. Laura Duque ; Leshinski, Angela C. ; Ducich, Nicole H....
Molecular Genetics and Metabolism. 139 (2023) 2 - p. 107605 , 2023

Link: https://doi.org/10.1016/..

6

PIGO‐CDG: A case study with a new genotype, expansion of th..:

Starosta, Rodrigo Tzovenos ; Kerashvili, Nino ; Pruitt, Cassandra...
JIMD Reports. 64 (2023) 6 - p. 424-433 , 2023

Link: https://doi.org/10.1002/..

7

MALE  DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTIN..:

Lasio, Maria Laura Duque ; de Luque, Jorge Granadillo ; Kratz, Lisa E.
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107407 , 2023

Link: https://doi.org/10.1016/..

8

The critical role of psychosine in screening, diagnosis, an..:

Guenzel, Adam J. ; Turgeon, Coleman T. ; Nickander, Kim K....
Genetics in Medicine. 22 (2020) 6 - p. 1108-1118 , 2020

Link: https://doi.org/10.1038/..

9

P389: Kagami-Ogata syndrome: The indispensable role of clin..:

Jensen, Nathaniel ; Saunders, Scott ; Ogata, Tsutomu...
Genetics in Medicine Open. 2 (2024) - p. 101283 , 2024

Link: https://doi.org/10.1016/..

10

Phenotypic, molecular, and functional characterization of C..:

Wongkittichote, Parith ; Duque Lasio, Maria Laura ; Magistrati, Martina...
Molecular Genetics and Metabolism. 139 (2023) 4 - p. 107630 , 2023

Link: https://doi.org/10.1016/..

11

Words matter: The language of difference in human genetics:

Cho, Mildred K. ; Duque Lasio, Maria Laura ; Amarillo, Ina...
Genetics in Medicine. 25 (2023) 3 - p. 100343 , 2023

Link: https://doi.org/10.1016/..

12

A recurrent de novo ATP5F1A substitution associated with ne..:

Lines, Matthew A. ; Cuillerier, Alexanne ; Chakraborty, Pranesh...
European Journal of Human Genetics. 29 (2021) 11 - p. 1719-1724 , 2021

Link: https://doi.org/10.1038/..

13

Clinical and Pathological Features of a Newborn With Compou..:

Kulkarni, Sakil ; Abro, Brooj ; Duque Lasio, Maria Laura...
Pediatric and Developmental Pathology. 23 (2019) 3 - p. 235-239 , 2019

Link: https://doi.org/10.1177/..

14

Elastin-driven genetic diseases:

Duque Lasio, Maria Laura ; Kozel, Beth A.
Matrix Biology. 71-72 (2018) - p. 144-160 , 2018

Link: https://doi.org/10.1016/..

15

PIGO‐CDG: A case study with a new genotype, expansion of th..:

Rodrigo Tzovenos Starosta ; Nino Kerashvili ; Cassandra Pruitt...
https://doi.org/10.1002/jmd2.12396. , 2023

Link: https://doi.org/10.1002/..