Results 171 to 180 of about 703,828 (371)

Objective assessment of nasal obstruction. [PDF]

open access: yesFujita Med J, 2023
Naito K   +5 more
europepmc   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

Nasal Obstruction [PDF]

open access: yesThe Journal of Laryngology and Rhinology, 1889
J. Fredk, W. Silk
openaire   +1 more source

Patient specific numerical simulation of flow in the human upper airways for assessing the effect of nasal surgery

open access: yes, 2017
The study is looking into the potential of using computational fluid dynamics (CFD) as a tool for predicting the outcome of surgery for alleviation of obstructive sleep apnea syndrome (OSAS).
Dahl, Sigrid Kaarstad   +3 more
core  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
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

Hallermann-Streiff Syndrome and Lower Limb Lymphedema with Nasal Obstruction. [PDF]

open access: yesCase Rep Med, 2022
Pereira de Godoy AC   +2 more
europepmc   +1 more source

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