Disease: Cataract dental syndrome
- A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
- A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts
- A large deletion spanning <em>PITX2</em> and <em>PANCR</em> in a Chinese family with Axenfeld-Rieger syndrome
- A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
- A novel frameshift mutation in the NHS gene causes Nance-Horan syndrome in a Chinese family
- A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
- A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family
- A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family
- A novel NHS mutation in a Chinese family with Nance-Horan Syndrome
- A novel NHS mutation in a Chinese family with Nance‑Horan Syndrome
- A novel small deletion in the NHS gene associated with Nance-Horan syndrome
- A novel Xp22.13 microdeletion in Nance-Horan syndrome
- A rare syndrome with unusual dental findings: Oculo-facio-cardio-dental syndrome
- Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015
- ALDH18A1-related cutis laxa syndrome with cyclic vomiting
- Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review
- Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency
- Capacity problems in the NHS's cardiac cath labs are harming patients
- Circular RNA circNHSL1 Contributes to Gastric Cancer Progression Through the miR-149-5p/YWHAZ Axis
- Clinical efficacy of diquafosol sodium 3% versus hyaluronic acid 0.1% in patients with dry eye disease after cataract surgery: a protocol for a single-centre, randomised controlled trial
- Clinical features of LONP1-related infantile cataract
- Clinical Role of Epigenetics and Network Analysis in Eye Diseases: A Translational Science Review
- Comparison of combination therapy of prednisolone and cyclosporine with corticosteroid pulse therapy in Vogt-Koyanagi-Harada disease
- Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth
- Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?
- Continuous Intraocular Pressure Monitoring During Nocturnal Sleep in Patients With Obstructive Sleep Apnea Syndrome
- Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
- Diagnostic and severity scores for Cockayne syndrome
- Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts
- Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series
- Elevated Aqueous Cytokine Levels in Eyes With Ocular Surface Diseases
- Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms
- Epidemiology of Persistent Dry Eye-Like Symptoms After Cataract Surgery
- Epidemiology of Persistent Postsurgical Pain Manifesting as Dry Eye-Like Symptoms After Cataract Surgery
- Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
- Expanding the phenotypic spectrum of ARCN1-related syndrome
- Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia
- Factors associated with low prevalence of Fuchs' uveitis syndrome in Japan
- Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <em>NHS</em> Gene in a Patient with Syndromic Cataracts
- Five-year follow-up outcomes of comprehensive rehabilitation in Korean siblings with cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome: A case report
- FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family
- Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation
- Genetic background of supernumerary teeth
- Genetic research on Nance-Horan syndrome caused by a new novel in the NHS
- Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene
- Germline <em>NUP98</em> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
- Government wants to blame NHS's problems on strikes, says Labour
- Great clinical variability of Nance Horan syndrome due to deleterious <em>NHS</em> mutations in two unrelated Spanish families
- Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families
- Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases
- Hallermann-Streiff Syndrome and Psychosis: A Case Report
- Hallermann-Streiff syndrome diagnosed in the seventh decade of life
- Hallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report
- Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review
- Identification of a novel microdeletion causative of Nance-Horan syndrome
- Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome
- Identification of a novel variant of NHS gene underlying Nance-Horan syndrome
- Identification of nuclear localization signals within the human BCOR protein
- Incidence of environmental and genetic factors causing congenital cataract in Children of Lahore
- Is the NHS's urgent and emergency care plan delivering what patients need?
- Main genetic entities associated with supernumerary teeth
- Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia
- Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome
- Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature
- Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
- Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration
- Nance-Horan syndrome-The oral perspective on a rare disease
- Nance-Horan Syndrome: A Rare Case Report
- Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families
- New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report
- NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome
- NHS's pandemic experience is to have had the fault lines in its working revealed
- Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome
- Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series
- Oculo-facio-cardio Dental Syndrome
- Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion
- Oculo-facio-cardio-dental syndrome caused by <em>BCOR</em> gene mutations: a case report
- Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness
- Oculo-Facio-Cardio-Dental Syndrome: A Case Report about a Rare Pathological Condition
- Oculofaciocardiodental syndrome caused by a novel BCOR variant
- Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients
- Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case
- Partha Kar: It's time for accountability and discomfort about the NHS's workforce inequalities
- Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome
- Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies
- Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome
- Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant
- Progressive Hemifacial Atrophy With Contralateral Uveitis: A Case Report
- Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome
- Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2
- Radiculomegaly of canines in oculofaciocardiodental syndrome
- Radiculomegaly: a case report of this rare dental finding with review of the associated oculo-facio-cardio-dental syndrome
- Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract
- Short Stature Syndromes: Case Series from India
- Syndromes with supernumerary teeth
- Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome
- The first case report of CODAS syndrome in Chinese population caused by two <em>LONP1</em> pathogenic mutations
- The NHS's forgotten workforce-a historical essay by Jennifer Crane
- Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene
- Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome