Results 171 to 180 of about 491,700 (340)

Nose and throat clinic of the presbyterian eye, ear and throat charity hospital, Baltimore, July 18, 18.90—Journ. Eye, Ear and Throat Diseases, vol. iv, no. 3, july, 1899 [PDF]

, 1900
Eaton
openalex   +1 more source

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

American 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, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

High Human Papillomavirus DNA loads in Inflammatory Middle Ear Diseases. [PDF]

Pathogens, 2020
Malagutti N, Rotondo JC, Cerritelli L, Melchiorri C, De Mattei M, Selvatici R, Oton-Gonzalez L, Stomeo F, Mazzoli M, Borin M, Mores B, Ciorba A, Tognon M, Pelucchi S, Martini F.   +14 more
europepmc   +1 more source

Comparative studies on anesthesia of the inner ear and injection of aqueous steroid into the middle ear cavity and their respective therapeutic effects on Meniere disease.

, 1987
Eiji Sakata
openalex   +2 more sources

The Role of Extracellular Vesicles in Diseases of the Ear, Nose, and Throat [PDF]

, 2022
Jonathan M. Carnino, Steven Miyawaki, Sanjeev Rampam   +2 more
openalex   +1 more source

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

American 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, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Risk of Ear-Associated Diseases After Zygomaticomaxillary Complex Fracture [PDF]

, 2015
Chao-Chih Yang, Chih‐Jaan Tai, Sou‐Hsin Chien, Cheng‐Li Lin, Shih‐Ni Chang, Fung‐Chang Sung, Chi‐Jung Chung, Chia‐Hung Kao   +7 more
openalex   +1 more source

Fungus disease of the ear [PDF]

The Laryngoscope, 1901
openaire   +2 more sources

A semi-automatic semantic method for mapping SNOMED CT concepts to VCM Icons

, 2013
VCM (Visualization of Concept in Medicine) is an iconic language for representing key medical concepts by icons. However, the use of this language with reference terminologies, such as SNOMED CT, will require the mapping of its icons to the terms of ...
Duclos, Catherine, Lamy, Jean-Baptiste, Tsopra, Rosy, Venot, Alain   +3 more
core   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source