Results 101 to 110 of about 1,777,874 (197)

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Hypermobility syndromes in paediatrics: progressions in assessment and management [PDF]

, 2016
Joint Hypermobility Syndrome (JHS) and Ehlers Danlos Syndrome-Hypermobility Type (EDS-HM) referred to collectively as Hypermobility Syndromes (HMS), are heritable disorders of connective tissue comprising symptomatic joint hypermobility predisposing to
Mooney, Alice Margaret
core  

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders

Advances in Rheumatology
Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and ...
Nilton Salles Rosa Neto, Ivânio Alves Pereira, Flávio Roberto Sztajnbok, Valderílio Feijó Azevedo   +3 more
doaj   +1 more source

Impaired perception of facial motion in autism spectrum disorder [PDF]

, 2014
Copyright: © 2014 O’Brien et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source
Alan Johnston (603153), Hill, H, Johnston Alan, Harold Hill (603154), Spencer Janine, Christine Girges, Girges, C, Janine Spencer (603152), Justin O’Brien (603151), Johnston, A, Janine Spencer, Hill Harold, Justin O'Brien, Alan Johnston, Justin O’Brien, O'Brien, J, Girges Christine, Spencer, J, Christine Girges (524297), Harold Hill, O’Brien Justin   +20 more
core   +2 more sources

Phenotype-based prediction of functional improvements following structured exercise intervention in children with hypermobility spectrum disorder

Revista Pesquisa em Fisioterapia
BACKGROUND: Exercise therapy is widely prescribed for children with hypermobility spectrum disorder (HSD), yet intervention studies consistently report substantial inter-individual variability in functional outcomes.
Kshama Susheel Shetty, Hariharasudhan Ravichandran, Kumaragurubaran Ravikumar, Madhusudhan Shivanna, Sutamali Subramanian, Balamurugan Janakiraman   +5 more
doaj   +1 more source

Lipedema and Hypermobility Spectrum Disorders Sharing Pathophysiology: A Cross-Sectional Observational Study

Journal of Clinical Medicine
Background/Objectives: Lipedema is a chronic, progressive disorder of the adipo-fascial tissue characterized by abnormal subcutaneous fat accumulation, inflammation, fibrosis, pain, and edema. Despite its considerable impact on patients’ quality of life, it remains underdiagnosed.
Fiengo, Elettra, Sbarbati, Andrea
openaire   +4 more sources

Autism Spectrum Disorder

Autism Spectrum Disorder of the Pittsburgh Pocket Psychiatry Series highlights current key topics for this developmental neurobiological disorder: early identification and diagnosis; medical, psychiatric, behavioral, social, educational and language ...
McGonigle, John J., Lubetsky, Martin J., Handen, Benjamin L.   +2 more
core  

Autism Spectrum Disorder What Every Parent Needs to Know

Front Cover -- Title Page -- Copyright -- From the Editors -- Contents -- Please Note -- Acknowledgments -- Chapter 1. What Is Autism Spectrum Disorder? -- Chapter 2. What Causes Autism Spectrum Disorder? -- Chapter 3.
Rosenblatt, MD, FAAP, Alan I., Carbone, MD, FAAP, Paul S., Pediatrics, American Academy of.   +2 more
core  

Parents’ responses to their child’s diagnosis of Autism Spectrum Disorder (ASD)

, 2010
Although a significant amount of research has reported the level of parental satisfaction with the disclosure of a diagnosis, little has documented their emotional responses after the diagnosis, their perceptions of the future, and the potential impact ...
Evans, Amber
core   +1 more source

Aggressive behavior in adolescents with fetal alcohol spectrum disorders [PDF]

, 2013
Includes bibliographical references.Behavioral studies of fetal alcohol spectrum disorders (FASD) have indicated that aggression is common amongst alcohol-exposed adolescents, and that it appears to become more prevalent with age in that population. Such
Smith, Keelie
core   +1 more source