Monica Gomez-Mora
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 10 publications
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.
Journal: Clinical genetics
Published: June 05, 2026
Comment on: Pulmonary hypertension in patients carrying FLNA loss-of-function variants.
Journal: The European respiratory journal
Published: March 19, 2026
Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.
Journal: Frontiers in medicine
Published: January 02, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.
Journal: Clinical genetics
Published: October 23, 2025
A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review.
Journal: American journal of medical genetics. Part A
Published: September 22, 2025
Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.
Journal: Frontiers in medicine
Published: August 18, 2025
Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension.
Journal: European journal of human genetics : EJHG
Published: June 05, 2025
Investigation of multilocus imprinting disturbance (MLID) in 101 Beckwith-Wiedemann spectrum patients.
Journal: Clinical epigenetics
Published: April 29, 2025
A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.
Journal: American journal of medical genetics. Part A
Published: January 16, 2025
Showing 1-10 of 10
Last Updated: 09/26/2026