Results 221 to 230 of about 9,706,348 (372)

Fundamentals of Otolaryngology: A Textbook of Ear, Nose and Throat Diseases [PDF]

, 1959

openalex   +1 more source

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

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Precision medicine: a new era for inner ear diseases. [PDF]

Front Pharmacol
Tavazzani E, Spaiardi P, Contini D, Sancini G, Russo G, Masetto S.   +5 more
europepmc   +1 more source

Middle-Ear Disease in School Children [PDF]

, 1937
F. J. G. Lishman
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Corrigendum: Precision medicine: a new era for inner ear diseases. [PDF]

Front Pharmacol
Tavazzani E, Spaiardi P, Contini D, Sancini G, Russo G, Masetto S.   +5 more
europepmc   +1 more source

The Nose, Throat and Ear and Their Diseases

, 1930
NULL AUTHOR_ID
openalex   +1 more source

Diseases of the Nose, Throat and Ear [PDF]

, 1937
J Simson Hall
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source