Results 181 to 190 of about 157,233 (348)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Full mouth rehabilitation of a young adult patient with Amelogenesis imperfecta

SRM Journal of Research in Dental Sciences, 2012
Amelogenesis imperfecta is a group of hereditary disorder without systemic involvement. Restoration of dentition with this disorder involves both esthetic and functional rehabilitation to improve the psychological status of the patient.
Mahendran Kavitha, Shanmugam Jaikailash, P Urmila   +2 more
doaj  

Functional and aesthetical full-mouth rehabilitation of a patient with severely worn dentition and deep bite using minimally invasive approach in current vertical dimension: A 3-year follow-up. [PDF]

Clin Case Rep, 2023
Yaghoobi N, Mostafavi A, Barati S.
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Full Mouth Rehabilitation of a Rare Case of Hypodontia: A Case Report. [PDF]

Case Rep Dent
Aminianpour N, Zeighami S.
europepmc   +1 more source

Fabrication of Definitive Cast for Complete Mouth Rehabilitation by Using Resin-Transfer Coping. [PDF]

Cureus, 2022
Alzahrani SJ.
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Characterization of the oral microbiota in zygomatic versus dental implants: Implications for full-mouth rehabilitation. [PDF]

J Dent Sci
Sung MY, Hsu PC, Kuo CY, Chen LK, Tsai CC, Hsu YC.   +5 more
europepmc   +1 more source

Full-mouth rehabilitation choices depending on amelogenesis imperfecta's type: A familial case report. [PDF]

Clin Case Rep, 2022
Mascarell S, Citterio H, Martiano V, Friedlander L.   +3 more
europepmc   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source