Results 91 to 100 of about 2,252,623 (207)

An association weight matrix identified biological pathways associated with bull fertility traits in a multi‐breed population

open access: yesAnimal Genetics, Volume 55, Issue 4, Page 495-510, August 2024.
Abstract Using seven indicator traits, we investigated the genetic basis of bull fertility and predicted gene interactions from SNP associations. We used percent normal sperm as the key phenotype for the association weight matrix–partial correlation information theory (AWM‐PCIT) approach.
Wei Liang Andre Tan   +5 more
wiley   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

open access: yesMedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng   +2 more
wiley   +1 more source

A qualitative exploration of children's lives with rare diseases

open access: yesChild: Care, Health and Development, Volume 50, Issue 4, July 2024.
Abstract Background Rare diseases encompass a diverse group of debilitating and sometimes life‐threatening conditions that affect a small percentage of the population, posing a significant public health challenge. Despite their rarity, around 70% of these diseases afflict children, yet limited research has focused on their experiences. This study aimed
Niamh Buckle   +6 more
wiley   +1 more source

Validation and cross‐cultural adaptation of the Italian version of the paediatric eating assessment tool (I‐PEDI‐EAT‐10) in genetic syndromes

open access: yesInternational Journal of Language &Communication Disorders, Volume 59, Issue 3, Page 1152-1162, May/June 2024.
Abstract Background The Pediatric Eating Assessment Tool (PEDI‐EAT‐10) is a reliable and valid tool for rapid identification of dysphagia in patients aged 18 months to 18 years. Aims To translate and adapt the PEDI‐EAT‐10 into the Italian language and evaluate its validity and reliability.
Roberta Onesimo   +14 more
wiley   +1 more source

Updated EUROCAT guidelines for classification of cases with congenital anomalies

open access: yesBirth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman   +7 more
wiley   +1 more source

Organic Brain Dysfunction and Autism

open access: yesPediatric Neurology Briefs, 1991
A population-based neurobiological study of 35 children with autistic disorder (AD) and 17 with autistic-like conditions (ALC) is reported from the Department of Child and Adolescent Psychiatry, University of Goteborg, Sweden.
J Gordon Millichap
doaj   +1 more source

Nichtokulomotorische Augenbeteiligung bei Möbius-Sequenz [PDF]

open access: yes, 2018
Zusammenfassung: Die Möbius-Sequenz betrifft nicht nur die Okulomotorik, sondern auch die Augen selbst. Das Sehen der Patienten kann durch das Syndrom erheblich beeinträchtigt sein.
Landau, K.   +3 more
core  

Moebius- Poland Syndrome: A case report

open access: yesIatreia, 2010
Moebius syndrome (OMIM 157900) is a congenital disorder related to paralysis of the VI and VII cranial nerves. Clinical findings include mainly facial nerve palsy and strabismus.
Mostapha Ahmad   +5 more
doaj  

A qualitative study of the experiences of people who identify themselves as having adjusted positively to a visible difference [PDF]

open access: yes, 2011
Individual and group interviews explored experiences of positive adjustment among 12 people with a range of visible differences. Thematic analysis identified four main themes: importance of appearance; personal growth; relationships with others; and ...
Appearance Research Collaboration,   +18 more
core   +1 more source

Moebius syndrome and anaesthesia – case report

open access: yesZdravniški Vestnik, 2005
Background: Moebius syndrome is a congenital disorder involving the 6th and 7th cerebral nerves. It very often involves facial and limb anomalies, and the children with this disorder can be mentally retarded.
Darja Šervicl-Kuchler
doaj  

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