• <em>SALL4</em>-Related Disorders
• <em>TCOF1</em> Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
• 22q11.2 Deletion Syndrome
• Aborted Cardiac Arrest in LQT2 Related to Novel <em>KCNH2</em> (<em>hERG</em>) Variant Identified in One Lithuanian Family
• Assessment of Cortical Auditory Function Using Electrophysiological and Neuropsychological Measurements in Children with Bone-Anchored Hearing Aids
• Associations between QT interval subcomponents, HIV serostatus, and inflammation
• Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome
• Augmentative and Alternative Communication Supports for Language and Literacy in Preschool: Considerations for Down Syndrome and Autism Spectrum Disorder
• Australian Paediatric Surveillance Unit (APSU) Annual Surveillance Report 2022
• Benefit of cochlear implantation in a patient with Myhre syndrome
• Branchio-oto-renal syndrome or branchio-oto syndrome: the clinical and genetic analysis in five Chinese families
• Brown Sequard syndrome in a patient with Klippel-Feil syndrome following minor trauma: a case report and literature review
• Case Report: Alagille Syndrome Presenting with Angioid Streaks
• Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study
• Childhood nosocomial viral acute respiratory tract infections in teaching hospital Anuradhapura, Sri Lanka
• Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study
• Clinical evaluation and resonance frequency analysis of laser-ablated titanium bone-anchored hearing implant system in children with Down Syndrome
• Clinical Ocular Diagnostic Model of Marfan Syndrome in Patients With Congenital Ectopia Lentis by Pentacam AXL System
• Cochlear Implantation in Craniometaphyseal Dysplasia
• Cochlear Implants in Alstrom Syndrome
• Congenital Cervical Spinal Deformities
• Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects
• Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology
• Disease mechanisms and gene therapy for Usher syndrome
• Do children with asymptomatic ventricular preexcitation have similar quality of life as healthy children?
• Effectiveness of ventilation tube insertion for conductive hearing loss in children with chronic otitis media with effusion and non-syndromic cleft palate: a systematic review protocol
• Effects of an AAC feature on decoding and encoding skills of adults with Down syndrome
• Effects of an Augmentative and Alternative Communication Technology Decoding Feature on Single-Word Reading by Individuals With Down Syndrome and Limited Functional Speech
• Evaluation of a smart home platform for adults with Down syndrome
• Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies
• Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
• Eye Tracking Measures Reveal How Changes in the Design of Displays for Augmentative and Alternative Communication Influence Visual Search in Individuals With Down Syndrome or Autism Spectrum Disorder
• Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome
• Fluoroscopic Evaluation of Duodenal Diseases
• Foetal Akinesia Deformation Sequence: A Rare Lethal Entity
• Function of FMRP Domains in Regulating Distinct Roles of Neuronal Protein Synthesis
• Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome
• Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay
• Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature
• Growing up with AAC in the digital age: a longitudinal profile of communication across contexts from toddler to teen
• Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review
• Hearing Loss in Adults With Alstrom Syndrome-Experience From the UK National Alstrom Service
• Higher prevalence of QTc interval prolongation among virologically suppressed older people with HIV
• Image-guided surgical navigation for bone-conduction hearing device implant placement
• Impact of Genetic Disorders in the Surgical Management of Congenital Heart Disease
• Integrating familiar listeners and speech recognition technologies into augmentative and alternative communication intervention for adults with down syndrome: Descriptive exploration
• Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• Ion Channel Diseases as a Cause of Sudden Cardiac Death in Young People: Aspects of Their Diagnosis, Treatment, and Pathogenesis
• Judicious Arrangement of Symbols on a Simulated Augmentative and Alternative Communication Display Optimizes Visual Attention by Individuals With Down Syndrome
• Lamivudine, a reverse transcriptase inhibitor, rescues cognitive deficits in a mouse model of down syndrome
• Long-term outcomes in sacral agenesis
• Management outcomes of otitis media with effusion in children with down syndrome: A systematic review
• Medically compromised patients in orthodontic practice: Review of evidence and recommendations
• Microtia and craniofacial microsomia: Content analysis of facebook groups
• Multiple synostoses syndrome: Clinical report and retrospective analysis
• Neural Tube Defects in Pregnancies Among Women With Diagnosed HIV Infection - 15 Jurisdictions, 2013-2017
• Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound
• Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis
• NFIX-Related Malan Syndrome
• Noonan Syndrome with Multiple Lentigines
• Noonan syndrome: cochlear implantation in the setting of cochlear nerve deficiency
• Novel duplication mutation of <em>EYA1</em> causes branchio-oto-renal syndrome in a Chinese family
• Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family
• Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population
• Observational Study to Preliminarily Characterize the Audiological Profile of Children With Down Syndrome
• One advantageous reflection of iron metabolism in context of normal physiology and pathological phases
• Orthodontic plate for management of obstructive sleep apnoea in infants with Pierre Robin sequence: experience and protocol in Hong Kong
• Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases
• Parent survey of sleep problems among children with CHARGE syndrome
• Pathogenesis and Treatment of Usher Syndrome Type IIA
• Piperaquine Pharmacokinetic and Pharmacodynamic Profiles in Healthy Volunteers of Papua New Guinea after Administration of Three-Monthly Doses of Dihydroartemisinin-Piperaquine
• Prevalence and characteristics of microtia in Oman: 37 Years analysis
• Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome
• Primary and secondary defects of the thymus
• QTc Prolongation Secondary to Zolpidem Use
• Rapid next-generation sequencing aids in diagnosis of transient abnormal myelopoiesis in a phenotypically normal newborn
• Replication-Deficient Zika Vector-Based Vaccine Provides Maternal and Fetal Protection in Mouse Model
• Risk factors for and incidence of hospital-acquired infections after cardiac surgery in children with congenital heart disease: a single center experience
• SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutieres syndrome
• Screening for congenital hearing impairment with brainstem evoked response audiometry in isolated orofacial cleft
• Shaping down syndrome brain cognitive and molecular changes due to aging using adult animals from the Ts66Yah murine model
• Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management
• System biological investigations of hydroxychloroquine and azithromycin targets and their implications in QT interval prolongation
• TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
• Testosterone use and shorter electrocardiographic QT interval duration in men living with and without HIV
• The Bardet-Biedl Syndrome - Diagnosis and Follow-up
• The development of a core key word signing vocabulary (Lamh) to facilitate communication with children with down syndrome in the first year of mainstream primary school in Ireland
• The effects of Goldenhar Syndrome on hearing and speech development
• The human face: genes, embryological development and dysmorphology
• The impact of amplification on quality of life in women with Turner syndrome
• The structure of participants' turn-transition practices in aided conversations that use speech-output technologies
• THOC6 Intellectual Disability Syndrome
• To See or Not to See: How Does Seeing Spellings Support Vocabulary Learning?
• Unusual presentation of acute encephalopathy with biphasic seizures and late reduced diffusion in Miller-Dieker syndrome
• Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy
• Using AAC video visual scene displays to increase participation and communication within a volunteer activity for adolescents with complex communication needs
• Using the ImPAACT program with preschoolers with Down syndrome: a hybrid service-delivery model
• Visual fixation patterns to AAC displays are significantly correlated with motor selection for individuals with Down syndrome or individuals on the autism spectrum
• Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome