Results 181 to 190 of about 705,495 (373)
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
Hallermann-Streiff Syndrome and Lower Limb Lymphedema with Nasal Obstruction. [PDF]
Pereira de Godoy AC +2 more
europepmc +1 more source
Acoustic Voice Analysis as a Tool for Assessing Nasal Obstruction: A Systematic Review [PDF]
Gamze Yeşilli-Puzella +6 more
openalex +1 more source
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
The Role of Nasal Endoscopy in the Preoperative Evaluation of Nasal Airway Obstruction [PDF]
Lauren Gardiner +3 more
openalex +1 more source
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
The effect of total nasal obstruction on the anatomy of craniofacial structures: An animal study
Mohsen Shirazi +2 more
openalex +1 more source

