Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II
MJK Haneveld, IJ Hieltjes, MW Langendam… - Genetics in …, 2024 - Elsevier
Purpose Rare genetic neurodevelopmental disorders associated with intellectual disability
require lifelong multidisciplinary care. Clinical practice guidelines may support healthcare …
require lifelong multidisciplinary care. Clinical practice guidelines may support healthcare …
A holistic approach to fragile X syndrome integrated guidance for person‐centred care
K Johnson, AC Stanfield, G Scerif… - Journal of Applied …, 2024 - Wiley Online Library
Abstract Background The Fragile X community has expressed a desire for centralised,
national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS) …
national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS) …
KBG syndrome: Prospective videoconferencing and use of AI-driven facial phenotyping in 25 new patients
Genetic variants in the gene Ankyrin Repeat Domain 11 (ANKRD11) and deletions in
16q24. 3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial …
16q24. 3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial …
[HTML][HTML] Focus: Rare Disease: Raising Knowledge and Awareness of Fragile X Syndrome in Serbia, Georgia, and Colombia: A Model for Other Developing Countries?
D Protic, MJ Salcedo-Arellano, M Stojkovic… - The Yale journal of …, 2021 - ncbi.nlm.nih.gov
Fragile X syndrome is the most common monogenetic cause of inherited intellectual
disability and syndromic autism spectrum disorder. Fragile X syndrome is caused by an …
disability and syndromic autism spectrum disorder. Fragile X syndrome is caused by an …
Rare Disease Registries: A Case Study of the Haemophilia Registry in India
J Nakade - Birth Defects in India: Epidemiology and Public Health …, 2021 - Springer
A cornerstone of public health planning is epidemiological data. Due to their low prevalence,
standard epidemiological methods are unsuitable for measuring the prevalence of rare …
standard epidemiological methods are unsuitable for measuring the prevalence of rare …
ASPECTOS GENÉTICOS E CLÍNICOS DA SÍNDROME DO X FRÁGIL: UM RELATO DE CASO
BV Carrijo, GB Oliveira - 2023 - repositorio.pucgoias.edu.br
Atualmente, as doenças geneticamente herdadas estão sendo foco de diversos estudiosos
da área da saúde, isso ocorre devido ao difícil diagnóstico e tratamento dessas patologias …
da área da saúde, isso ocorre devido ao difícil diagnóstico e tratamento dessas patologias …