Results 231 to 240 of about 9,706,348 (372)

Exploring the Significance of Vitamin D Levels as a Biomarker in Ear Diseases: A Narrative Review. [PDF]

Cureus
Hamayal M, Khurshied S, Zahid MA, Khurshid N, Shahid W, Ali M, Ahmed H, Nisa M.   +7 more
europepmc   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

miR‑10b‑3p, miR‑8112 and let‑7j as potential biomarkers for autoimmune inner ear diseases. [PDF]

Mol Med Rep, 2019
Zhang J, Wang N, Xu A.
europepmc   +1 more source

Discussion on “the Influence of Diseases and Abnormalities of the Nose on the Ear” [PDF]

, 1918
Urban Pritchard
openalex   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

ROYAL FREE HOSPITAL. A CASE OF DISEASE OF THE MIDDLE EAR IN WHICH A RESULTING TEMPORO-SPHENOIDAL ABSCESS DISCHARGED THROUGH THE NOSE; NECROPSY [PDF]

, 1895
Brooke Barrow
openalex   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Clinical Study on Middle Ear Diseases in Children with Orofacial Clefts. [PDF]

Cureus, 2018
Kalaiarasi R, Syed KA, Vijayakumar C, Varghese AM, John M.   +4 more
europepmc   +1 more source

PRACTICAL REMARKS AND SUGGESTIONS IN REGARD TO DISEASES OF THE EAR, THROAT AND NOSE. [PDF]

, 1885
Joseph A. White
openalex   +1 more source

Fungus disease of the ear [PDF]

The Laryngoscope, 1901
openaire   +3 more sources