Carmen Milla-Palma
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 21 publications
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Journal: Pediatric neurology
Published: December 20, 2023
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: August 14, 2023
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Journal: Neuropediatrics
Published: September 20, 2022
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Journal: Frontiers in genetics
Published: July 13, 2022
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Journal: International journal of molecular sciences
Published: March 15, 2022
Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
Journal: European journal of medical genetics
Published: October 24, 2021
Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: May 19, 2021
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
Journal: Neurogenetics
Published: April 03, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Journal: Genes
Published: February 25, 2021
Last Updated: 09/26/2026