Results 101 to 110 of about 525,073 (300)

“Will you be there for me?” Social support from family and friends during cold case sexual assault prosecutions

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract If sexual assault survivors report the assault to the criminal legal system, they often need informal support from family and friends throughout the long and frequently retraumatizing process of investigation and prosecution. This study is part of a long‐term community‐based participatory action research project in a predominately Black ...
Rebecca Campbell   +4 more
wiley   +1 more source

Otitis externa associated with Demodex cati - case report

open access: yesArquivo Brasileiro de Medicina Veterinária e Zootecnia
Feline demodicosis caused by Demodex cati is a rare parasitic disease, characterized by local or generalized dermatitis and less commonly by otitis.
J.P.C. Ribeiro   +4 more
doaj   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif   +3 more
wiley   +1 more source

Self-tuning to the Hopf bifurcation in fluctuating systems

open access: yes, 2005
The problem of self-tuning a system to the Hopf bifurcation in the presence of noise and periodic external forcing is discussed. We find that the response of the system has a non-monotonic dependence on the noise-strength, and displays an amplified ...
Arnold L   +38 more
core   +2 more sources

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

External ear: An analysis of its uniqueness

open access: yesEgyptian Journal of Forensic Sciences, 2016
In modern times the establishment of personal identity has widened its scope considerably by encompassing various morphological traits e.g. face, iris, retina, hand etc. apart from traditional dactyloscopy.
Ruma Purkait
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

DPOAE in HIV infected adults [PDF]

open access: yes, 2008
HIV infection is associated with impairment of hearing function, at any stage of disease causing complication to the external, middle, inner ear and CNS.
Bhat, Jayashree S, Ranjan, Rajesh
core  

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

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