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1

Prevalence of pathogenic or likely pathogenic germline vari..:

Arrieta, Oscar ; Caballé-Pérez, Enrique ; Hernández-Pedro, Norma...
Lung Cancer. 194 (2024) - p. 107864 , 2024

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

2

Case report: A familial B-acute lymphoblastic leukemia asso..:

García-Solorio, Joaquín ; Martínez-Villegas, Octavio ; Rodríguez-Corona, Ulises...
Frontiers in Oncology. 14 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

CFTR pathogenic variants spectrum in a cohort of Mexican pa..:

Martínez-Hernández, Angélica ; Mendoza-Caamal, Elvia C. ; Mendiola-Vidal, Namibia G....
Heliyon. 10 (2024) 7 - p. e28984 , 2024

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

4

Uterus infantilis: a novel phenotype associated with AARS2 ..:

Kazakova, Ekaterina ; Téllez-Martínez, José Alberto ; Flores-Lagunes, Leonardo...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

Pediatric Porcelain Aorta Secondary to Gaucher Disease Type..:

Silva-Estrada, Jorge ; Cervantes-Barragán, David E. ; Reyes-de la Cruz, Lorenzo...
JACC: Case Reports. 4 (2022) 22 - p. 1504-1508 , 2022

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

6

Discovery and validation of dominantly inherited Alzheimer'..:

Takada, Leonel Tadao ; Aláez-Verson, Carmen ; Burgute, Bhagyashri D....
Alzheimer's Research & Therapy. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

7

Rapid Identification of Drug Resistance and Phylogeny in M...:

Barbosa-Amezcua, Martín ; Cuevas-Córdoba, Betzaida ; Fresno, Cristóbal...
Microbiology Spectrum. 10 (2022) 5 - p. , 2022

Link: https://doi.org/10.1128/..

8

Unusual Clinical Manifestations in a Mexican Patient with S..:

Fernández-Hernández, Liliana ; Reyna-Fabián, Miriam Erandi ; Alcántara-Ortigoza, Miguel Angel...
Diagnostics. 12 (2022) 5 - p. 1268 , 2022

Link: https://doi.org/10.3390/..

9

Correction to: Clinical Manifestations, Mutational Analysis..:

Lugo-Reyes, Saul Oswaldo ; Pastor, Nina ; González-Serrano, Edith...
Journal of Clinical Immunology. 41 (2021) 7 - p. 1708-1708 , 2021

Link: https://doi.org/10.1007/..

10

Clinical Manifestations, Mutational Analysis, and Immunolog..:

Lugo-Reyes, Saul Oswaldo ; Pastor, Nina ; González-Serrano, Edith...
Journal of Clinical Immunology. 41 (2021) 6 - p. 1291-1302 , 2021

Link: https://doi.org/10.1007/..

11

ALG1-CDG Caused by Non-functional Alternative Splicing Invo..:

González-Domínguez, Carlos Alberto ; Fiesco-Roa, Moisés O. ; Gómez-Carmona, Samuel...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

12

Corrigendum: ALG1-CDG Caused by Non-Functional Alternative ..:

González-Domínguez, Carlos Alberto ; Fiesco-Roa, Moisés O. ; Gómez-Carmona, Samuel...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

13

Failing to Make Ends Meet: The Broad Clinical Spectrum of D..:

Staines Boone, Aidé Tamara ; Chinn, Ivan K. ; Alaez-Versón, Carmen...
Frontiers in Pediatrics. 6 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

14

Mutational profile by targeted next generation sequencing o..:

Hernández-Pedro, Norma ; Soca-Chafre, Giovanny ; Alaez-Versón, Carmen...
Salud Pública de México. 61 (2019) 3, may-jun - p. 308 , 2019

Link: https://doi.org/10.21149..

15

In silico prediction of the pathogenic effect of a novel va..:

Fernández-Lainez, Cynthia ; Aláez-Verson, Carmen ; Ibarra-González, Isabel...
Clinica Chimica Acta. 483 (2018) - p. 33-38 , 2018

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

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