Review
Published on 18 Oct 2022
GNE myopathy: History, etiology, and treatment trials
in Neuromuscular Disorders and Peripheral Neuropathies
Frontiers in Neurology
doi 10.3389/fneur.2022.1002310
- 12,264 views
- 26 citations
17 articles related to "Ultrarare"
Articles
Review
Published on 22 Nov 2021
The Role of GM-CSF Autoantibodies in Infection and Autoimmune Pulmonary Alveolar Proteinosis: A Concise Review
in Autoimmune and Autoinflammatory Disorders
Frontiers in Immunology
doi 10.3389/fimmu.2021.752856
- 20,146 views
- 66 citations
Original Research
Accepted on 20 Apr 2026
Burden of Novel and Ultra-Rare Missense Variants in the NF-κB Pathway Genes Associated to Ménière's Disease
in Inflammation
Frontiers in Immunology
- 288 views
Original Research
Published on 12 Apr 2022
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.858396
- 7,371 views
- 10 citations
Original Research
Published on 09 Jan 2023
Novel variants of seryl-tRNA synthetase resulting in HUPRA syndrome featured in pulmonary hypertension
in General Cardiovascular Medicine
Frontiers in Cardiovascular Medicine
doi 10.3389/fcvm.2022.1058569
- 3,737 views
- 4 citations
Original Research
Published on 01 Dec 2021
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.737094
- 7,868 views
- 21 citations
Review
Published on 23 Dec 2024
An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic
in Pediatric Pulmonology
Frontiers in Pediatrics
doi 10.3389/fped.2024.1479620
- 3,148 views
- 1 citation
Case Report
Published on 04 Mar 2026
Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum
in Obesity
Frontiers in Endocrinology
doi 10.3389/fendo.2026.1725771
- 681 views
Case Report
Published on 04 Aug 2022
Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2022.867856
- 3,691 views
- 11 citations
Original Research
Published on 11 Aug 2022
Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center
in Neurogenetics
Frontiers in Neurology
doi 10.3389/fneur.2022.945280
- 5,094 views
- 6 citations
Original Research
Published on 30 Jun 2023
Investigating the role of ASCC1 in the causation of bone fragility
in Pediatric Endocrinology
Frontiers in Endocrinology
doi 10.3389/fendo.2023.1137573
- 6,086 views
- 5 citations
Review
Published on 13 Feb 2026
Primary membranoproliferative glomerulonephritis: natural history, pathogenesis, and treatment
in Glomerular disease
Frontiers in Nephrology
doi 10.3389/fneph.2026.1747678
- 1,565 views
- 1 citation
Mini Review
Published on 15 Jan 2024
DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
in Neuromuscular Disorders and Peripheral Neuropathies
Frontiers in Neurology
doi 10.3389/fneur.2023.1288721
- 16,836 views
- 13 citations
Case Report
Published on 23 Jun 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1174046
- 6,062 views
- 7 citations
Original Research
Published on 23 Apr 2026
Kaposiform lymphangiomatosis—the effects of long-term treatment with sirolimus: case series study and review of the literature
in Pulmonary Medicine
Frontiers in Medicine
doi 10.3389/fmed.2026.1705297
- 493 views
Brief Research Report
Published on 06 Oct 2023
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene
in Hematologic Malignancies
Frontiers in Oncology
doi 10.3389/fonc.2023.1229507
- 5,443 views
- 4 citations