Results 121 to 130 of about 1,646,172 (334)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque +7 more
wiley +1 more source
Preventing Pneumococcal Disease: A Canadian Consensus Conference, February 16 to 18, 1998 [PDF]
, 1999 openalex +1 more source
ECHM Consensus Conference and levels of evidence
Diving and Hyperbaric Medicine Journal, 2017 The ECHM Consensus Conference on indications for hyperbaric oxygen treatment (HBOT) was a welcome update of the evidence for HBOT use. However, clarification is requested in relation to how the GRADE system (Grades of Recommendation, Assessment, Development and Evaluation) was modified and how levels of evidence were applied in the case of idiopathic ...
openaire +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Royal College of Physicians of Edinburgh consensus conference on medical management of stroke, 26 and 27 May 1998 [PDF]
, 1999 openalex +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart +12 more
wiley +1 more source
6th International Consensus Conference on the Treatment of Primary Breast Cancer [PDF]
, 1998 Claus Henning Köhne +51 more
openalex +1 more source
PolyAnalgesic Consensus Conference 2000 [PDF]
Journal of Pain and Symptom Management, 2000 Samuel J. Hassenbusch +2 more
openaire +3 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT International collaborations between high‐income countries (HICs) and low‐ and middle‐income countries (LMICs) have become increasingly essential in advancing global health, particularly within psychiatric research. These partnerships not only accelerate scientific discovery and enhance public health, but they also bring to light significant ...
Brenda Cabrera‐Mendoza +27 more
wiley +1 more source