Results 161 to 170 of about 34,444 (356)

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

open access: yesClinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm   +24 more
wiley   +1 more source

PRACTICAL CONSIDERATIONS AND GUIDELINES IN DENTAL SLEEP MEDICINE

open access: yesRomanian Journal of Oral Rehabilitation, 2019
AIM: This scientific paper focuses on dentists’ role in the early detection and treatment of certain types of sleep disorders, as nowadays they represent a frequently met chronic pathology.
Mihaela Pantea   +5 more
doaj  

Genetics and Obstructive Sleep Apnea Syndrome: A Study of Human Leukocyte Antigen(HLA) Typing.

open access: bronze, 1993
Takayuki Yoshizawa   +4 more
openalex   +2 more sources

The Changes of Plasma Catecholamines Concentration during Waking and Sleep in Obstructive Sleep Apnea Syndrome Patients with Systemic Hypertension [PDF]

open access: bronze, 1996
Hwa Sik Moon   +6 more
openalex   +1 more source

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

open access: yesClinical Genetics, EarlyView.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix   +3 more
wiley   +1 more source

Treatment of Obstructive Sleep Apnea Syndrome by Rapid Maxillary Expansion [PDF]

open access: bronze, 1998
Peter A. Cistulli   +2 more
openalex   +1 more source

Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

open access: yesClinical Genetics, EarlyView.
We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes   +23 more
wiley   +1 more source

Evaluation of home audiotapes as an abbreviated test for obstructive sleep apnea syndrome (OSAS) in children [PDF]

open access: bronze, 1999
Carin Lamm, John Mandeli, Meyer Kattan
openalex   +1 more source

Sleep Apnea Syndrome [PDF]

open access: yesTuberculosis and Respiratory Diseases, 1989
openaire   +1 more source

Home - About - Disclaimer - Privacy