Disease: Fraser like syndrome
- "I feel like my body is broken": exploring the experiences of people living with long COVID
- "Keep it short and sweet": Improving risk communication to family physicians during public health crises
- "Tinkle Tinkle Little Girl, How We Wonder Why You Can't": An Unusual AIDP-like Syndrome in a Toddler
- 36th International Symposium on Intensive Care and Emergency Medicine : Brussels, Belgium. 15-18 March 2016
- A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia
- A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry?
- A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1
- A family study of craniosynostosis, with probable recognition of a distinct syndrome
- A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1
- A national consensus management pathway for paediatric inflammatory multisystem syndrome temporally associated with COVID-19 (PIMS-TS): results of a national Delphi process
- A novel mutation in EED associated with overgrowth
- A Novel RELA Truncating Mutation in a Familial Behcet's Disease-like Mucocutaneous Ulcerative Condition
- A novel speckle-tracking echocardiography parameter assessing left ventricular afterload
- A persistent adenovirus type 1 infection in synovial tissue from an immunodeficient patient with chronic, rheumatoid-like polyarthritis
- AMACO is a component of the basement membrane-associated Fraser complex
- Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10
- An aminopterin-like syndrome without aminopterin (ASSAS)
- Anchoring Cords: A Distinct Suprastructure in the Developing Skin
- Androgen insensitive male rats display increased anxiety-like behavior on the elevated plus maze
- Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling
- Baseline Characteristics in the Remote Diet Intervention to REduce long-COVID Symptoms Trial (ReDIRECT)
- Bilateral Central Retinal Vein Occlusion and Stevens-Johnson Syndrome Associated with Coronavirus-19: A Case Report
- Bone density and body composition in children with growth hormone insensitivity syndrome receiving recombinant IGF-I
- Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects
- CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function
- Characterization of the signal transduction pathway mediating gamma ray-induced inhibition of DNA synthesis in human cells: indirect evidence for involvement of calmodulin but not protein kinase C nor p53
- Circadian and ultradian rhythm and leptin pulsatility in adult GH deficiency: effects of GH replacement
- CLIC-01: Manufacture and distribution of non-cryopreserved CAR-T cells for patients with CD19 positive hematologic malignancies
- Clinical applications of LHRH analogues
- De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
- Deferasirox-induced liver injury and Fanconi syndrome in a beta-thalassemia major male
- Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report
- Electrophysiological characterization of the hERG R56Q LQTS variant and targeted rescue by the activator RPR260243
- Establishment of proprotein convertase, furinA knocked-out lines in medaka, Oryzias latipes, and unique form of medaka furin-like prorprotein convertase (mflPC)
- Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli
- Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1
- Fraser syndrome with limb reduction defect: a rare and unique anatomic variation
- Full functional activity of SSL7 requires binding of both complement C5 and IgA
- Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele
- Genomic sister-disorders of neurodevelopment: an evolutionary approach
- Growth response to rhIGF-I 80 microg/kg twice daily in children with growth hormone insensitivity syndrome: relationship to severity of clinical phenotype
- Hemicentin 2 and Fibulin 1 are required for epidermal-dermal junction formation and fin mesenchymal cell migration during zebrafish development
- High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variants
- Histopathological effects of acute exposure to chlorine gas on Sprague-Dawley rat lungs
- Human disease-associated extracellular matrix orthologs ECM3 and QBRICK regulate primary mesenchymal cell migration in sea urchin embryos
- Hydralazine for essential hypertension
- Hydralazine for essential hypertension
- Hypothalamic regulatory peptides in obese and lean Zucker rats
- Internal carotid artery stenosis: A novel surgical model for moyamoya syndrome
- Internal Carotid Artery Stenosis: A Surgical Mouse Model to Study Moyamoya Syndrome
- King syndrome: further clinical variability and review of the literature
- Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
- Measurement of luteinizing hormone and plasma testosterone-like substances in the investigation of hypogonadism
- Metformin: Is it a drug for all reasons and diseases?
- Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome
- MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
- Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome
- Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
- Mutations in GRIP1 cause Fraser syndrome
- Novel Outcome Biomarkers Identified With Targeted Proteomic Analyses of Plasma From Critically Ill Coronavirus Disease 2019 Patients
- Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development
- Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM
- Pes anserinus syndrome due to solitary tibial spurs and osteochondromas
- Piecing together a ciliome
- Prenatal diagnosis of Fraser syndrome: a matter of life or death?
- Pseudoaminopterin syndrome: clinical report with new characteristics
- Pubertal Hormonal Changes and the Autonomic Nervous System: Potential Role in Pediatric Orthostatic Intolerance
- Rare case report - congenital diaphragmatic hernia presentation in adult
- Rare SUZ12 variants commonly cause an overgrowth phenotype
- Regulation of pregnancy-associated plasma protein A2 (PAPPA2) in a human placental trophoblast cell line (BeWo)
- Repurposing Metformin for Vascular Disease
- Shared and Distinct Mechanisms of Compartmentalized and Cytosolic Ciliogenesis
- Shifting headlines? Size trends of newsworthy fishes
- The bacterial superantigen and superantigen-like proteins
- The efficacy of Ranolazine on E1784K is altered by temperature and calcium
- The global response to the COVID-19 pandemic: how have immunology societies contributed?
- The hallmarks of autism
- The mutant guppy syndrome curveback as a model for human heritable spinal curvature
- The remote diet intervention to reduce Long COVID symptoms trial (ReDIRECT): protocol for a randomised controlled trial to determine the effectiveness and cost-effectiveness of a remotely delivered supported weight management programme for people with Lon
- The role of neutrophil chemotactic cytokines in the pathogenesis of equine chronic obstructive pulmonary disease (COPD)
- Time-course of functional and pathological changes after a single high acute inhalation of chlorine in rats
- To transfuse, or not to transfuse: that is the question
- Toward autonomy in love and work: situating the film "Yo, tambiƩn" within the political project of disability studies
- Transcriptomic profiling of cardiac tissues from SARS-CoV-2 patients identifies DNA damage
- Transmission scenarios for Middle East Respiratory Syndrome Coronavirus (MERS-CoV) and how to tell them apart
- Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1
- X-ray crystallographic characterization of the SARS-CoV-2 main protease polyprotein cleavage sites essential for viral processing and maturation