Daniel R. Carvalho
Brasilia, DF, Brazil
Last Updated: 09/26/2026
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Found 17 publications
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Journal: Genetics in medicine open
Published: August 11, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Journal: Molecular genetics and metabolism
Published: April 27, 2023
Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.
Journal: Modern rheumatology
Published: April 03, 2023
Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication.
Journal: Cytogenetic and genome research
Published: October 28, 2020
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant.
Journal: Journal of pediatric genetics
Published: August 29, 2020
Unique skeletal manifestations in patients with Primrose syndrome.
Journal: European journal of medical genetics
Published: March 25, 2020
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Journal: American journal of medical genetics. Part A
Published: February 21, 2020
Primrose syndrome: Characterization of the phenotype in 42 patients.
Journal: Clinical genetics
Published: January 26, 2020
Defining the clinical phenotype of Saul-Wilson syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 21, 2019
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Journal: Nature
Published: October 05, 2019
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Journal: American journal of human genetics
Published: May 28, 2018
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.
Journal: American journal of medical genetics. Part A
Published: July 18, 2017
Last Updated: 09/26/2026