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
- 11,612 views
- 23 citations
15 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
- 19,513 views
- 62 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
- 7,609 views
- 19 citations
Case Report
Accepted on 26 Jan 2026
Familial partial lipodystrophy: description of novel and ultrarare variants with distinct phenotypic spectrum
in Obesity
Frontiers in Endocrinology
- 123 views
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
- 2,883 views
- 1 citation
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
- 3,548 views
- 4 citations
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
- 6,955 views
- 10 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
- 5,852 views
- 5 citations
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
- 3,531 views
- 9 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
- 4,821 views
- 6 citations
Review
Published on 25 Jun 2021
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
in Movement Disorders
Frontiers in Neurology
doi 10.3389/fneur.2021.677551
- 8,079 views
- 32 citations
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
- 5,189 views
- 4 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
- 5,710 views
- 6 citations
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
- 15,637 views
- 13 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
- 613 views