[HTML][HTML] Smith-magenis syndrome—clinical review, biological background and related disorders
B Rinaldi, R Villa, A Sironi, L Garavelli, P Finelli… - Genes, 2022 - mdpi.com
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive
physical features, developmental delay, cognitive impairment, and a typical behavioral …
physical features, developmental delay, cognitive impairment, and a typical behavioral …
Smith–Magenis Syndrome
ACM Smith, AL Gropman - Cassidy and Allanson's …, 2021 - Wiley Online Library
Smith–Magenis syndrome (SMS) is a multisystem multiple congenital anomaly/intellectual
disability disorder commonly caused by de novo interstitial deletion of chromosome 17p11 …
disability disorder commonly caused by de novo interstitial deletion of chromosome 17p11 …
CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes
BJ Landis, DS Cooper, RB Hinton - Cardiology in the Young, 2016 - cambridge.org
CHD is frequently associated with a genetic syndrome. These syndromes often present
specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri …
specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri …
Sleep hypoventilation in patients with neuromuscular diseases
MM Grigg-Damberger, LK Wagner… - Sleep Medicine …, 2012 - sleep.theclinics.com
Increasing numbers of patients with neuromuscular disorders (NMD) are prescribed assisted
nocturnal ventilation for sleep-related chronic alveolar hypoventilation, which has resulted in …
nocturnal ventilation for sleep-related chronic alveolar hypoventilation, which has resulted in …
Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature
SL Burke, P Maramaldi - Intellectual and Developmental …, 2016 - meridian.allenpress.com
Abstract The Social Security Administration (SSA) launched the Compassionate Allowances
List (CAL) in 2008. This created a mechanism for expediting review and delivery of disability …
List (CAL) in 2008. This created a mechanism for expediting review and delivery of disability …
[HTML][HTML] Smith-Magenis Syndrome Synonym: del (17)(p11. 2)
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly
coarse facial features that progress with age), developmental delay, cognitive impairment …
coarse facial features that progress with age), developmental delay, cognitive impairment …
[PDF][PDF] Smith–magenis syndrome. A unique neonatal presentation among the Arab population
A Masry, M Alkhdr, H Salama - MOJ Clin Med Case Rep, 2020 - researchgate.net
Abstract Smith–Magenis Syndrome (SMS) is a rare multisystem genetic disorder caused by
a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome …
a heterozygous deletion of or a heterozygous pathogenic variant in RAI1 on chromosome …