Maria D. Gallart-Miramar

Zaragoza, AR, Spain

Last Updated: 09/26/2026

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Found 11 publications

A case report of apparent mineralocorticoid excess, with nephrological and neurological symptoms since birth, and with a new probably pathogenic variant in HSD11B2 gene.

A case report of apparent mineralocorticoid excess, with nephrological and neurological symptoms since birth, and with a new probably pathogenic variant in HSD11B2 gene.

Journal: Nefrologia

Published: December 07, 2024

Hereditary Pancreatic Cancer: Advances in Genetic Testing, Early Detection Strategies, and Personalized Management.

Hereditary Pancreatic Cancer: Advances in Genetic Testing, Early Detection Strategies, and Personalized Management.

Journal: Journal of clinical medicine

Published: November 14, 2024

Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.

Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.

Journal: Clinical genetics

Published: October 26, 2020

A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.

A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.

Journal: Acta clinica Belgica

Published: June 17, 2020

Neurological manifestations of neurofibromatosis type 1: our experience.

Neurological manifestations of neurofibromatosis type 1: our experience.

Journal: Neurologia

Published: March 14, 2019

Neurological manifestations of neurofibromatosis type 1: our experience.

Neurological manifestations of neurofibromatosis type 1: our experience.

Journal: Neurologia

Published: March 14, 2019

Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing.

Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing.

Journal: Revista espanola de enfermedades digestivas

Published: October 17, 2017

Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.

Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.

Journal: Neurologia

Published: December 20, 2016

Clinical impact of translocation t(7;15) (p22;q26) on several family members

Clinical impact of translocation t(7;15) (p22;q26) on several family members

Journal: Anales de pediatria (Barcelona, Spain : 2003)

Published: September 26, 2016

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

Journal: Breast cancer research and treatment

Published: September 20, 2016

Phenotype in patients with intellectual disability and pathological results in array CGH.

Phenotype in patients with intellectual disability and pathological results in array CGH.

Journal: Neurologia (Barcelona, Spain)

Published: November 02, 2015

Showing 1-11 of 11

Last Updated: 09/26/2026