• "Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis
• A case report of Dubowitz syndrome accompanied by congenital anal atresia
• A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
• Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1
• Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
• Anaesthesia and orphan disease: Dubowitz syndrome
• Anesthesia of a patient with Dubowitz syndrome -A case report-
• Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy
• Association between nasal polyposis, Dubowitz syndrome and hyper-IgE syndrome
• Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres
• Atopic eczema in monozygotic twins with Dubowitz syndrome
• Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency
• Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
• Cataracts associated with systemic disorders and syndromes
• Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders
• Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome
• Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research
• Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome
• Co-existence of Dubowitz and hyper-IgE syndromes: a case report
• Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a hyper-IgE and a Dubowitz-like syndrome
• Congenital atrichia and hypotrichosis
• Coronary artery disease: a new manifestation in Dubowitz syndrome
• Cranial midline abnormalities in Dubowitz syndrome: MR imaging findings
• Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
• Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies
• Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome
• Demographics and ocular findings in children with myasthenia
• Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report
• Do social isolation and neighborhood walkability influence relationships between COVID-19 experiences and wellbeing in predominantly Black urban areas?
• Dubowitz syndrome
• Dubowitz syndrome
• Dubowitz syndrome
• Dubowitz syndrome and achalasia: two rare conditions in a child
• Dubowitz syndrome and atopic eczema. Case report of monozygotic twins
• Dubowitz syndrome and the increased risk of developing malignancies
• Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability
• Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
• Dubowitz syndrome, polymyositis and aleucemic myeloblastic leucemia: a new association
• Dubowitz syndrome: a cholesterol metabolism disorder?
• Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
• Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features
• Dubowitz syndrome: common findings and peculiar urine odor
• Dubowitz syndrome: report of a case with emphasis on the oral features
• Dubowitz syndrome: review of 141 cases including 36 previously unreported patients
• Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome
• Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
• Engineering of human induced pluripotent stem cells via human artificial chromosome vectors for cell therapy and disease modeling
• Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report
• Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses
• Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome?
• Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q
• Fifty years of recognizable patterns of human malformation: Insights and opportunities
• Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome
• GGPS1-associated muscular dystrophy with and without hearing loss
• Growth hormone deficiency in Dubowitz syndrome
• Hashimoto Thyroiditis in a Patient With Dubowitz Syndrome and Short Stature
• Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
• Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
• Identification of the DNA repair defects in a case of Dubowitz syndrome
• Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
• Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
• Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother: a new variant of Dubowitz syndrome?
• Lamin A precursor localizes to the Z-disc of sarcomeres in the heart and is dynamically regulated in muscle cell differentiation
• Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies
• Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome
• Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
• Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome
• Molecular mechanisms underlying altered neurobehavioural development of female offspring of mothers with polycystic ovary syndrome: FOS-mediated regulation of neurotrophins in placenta
• Multiple cerebral cavernous malformations in association with a Dubowitz-like syndrome
• Neonatal resuscitation and unreasonable obstinacy: a hospital ordered to pay damages
• NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs
• Oligodontia and Facial Phenotype Associated with a Rare Syndrome
• Ophthalmologic findings in the Dubowitz syndrome
• Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome
• Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice
• PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature
• Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter
• Profound T-cell defects in Dubowitz syndrome
• Progressive scoliosis in Dubowitz syndrome
• Pyoderma gangrenosum in a patient with Dubowitz syndrome: a new comorbidity?
• Pyoderma Gangrenosum: A Challenging Cutaneous Manifestation in Dubowitz Syndrome
• Recurrent Ptosis in a Case of Dubowitz Syndrome
• Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy
• Skeletal Muscle Channelopathies
• Spontaneous Keloids: A Literature Review
• Submental intubation: surgical and anesthesiological aspects
• Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report
• Thalassemia major in a child with Dubowitz syndrome
• The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
• The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings
• The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining
• The relationship between MR images and clinical findings in neuronal migration disorders
• Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease
• Unsolved recognizable patterns of human malformation: Challenges and opportunities
• Unusual complication following trauma to a bone-anchored hearing aid: case report and literature review
• Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <em>TPK1</em>-Related Diseases
• Vascular Pathology Causing Late Onset Generalized Chorea: A Clinico-Pathological Case Report
• What syndrome is this? Dubowitz syndrome
• Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome