Results 221 to 230 of about 433,497 (298)

Neurotologic Findings of Idiopathic Acute Unilateral Audiovestibulopathy. [PDF]

Eur J Neurol
Kim KT, Park A, Lee SU, Park E, Kim B, Kim JS.   +5 more
europepmc   +1 more source

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

Detection of cholesteatoma recurrence by magnetic resonance imaging (DWI non-EPI sequence) - how can we minimise false results? [PDF]

Pol J Radiol
Pietraszek M, Stański M, Marszał J, Karmelita-Katulska K, Bartochowska A, Balcerowiak A, Gawęcki W.   +6 more
europepmc   +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

Anthropometry of the External Ear in Korean Adults: A Multicenter Study. [PDF]

J Korean Med Sci
Cho E, Won JY, Park MH, Oh JH, Lee IW, Choung YH, Cho YS, Han GC, Lee HJ.   +8 more
europepmc   +1 more source

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes. [PDF]

BMC Med Genomics
Bi J, Guo W, Ji P, Xie Y.
europepmc   +1 more source

Comparison of the Probable Error of a Transit of a Star Observed with the Transit-circle by the "Eye and Ear" and Chronographic Methods [PDF]

E. H. W. Dunkin
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

Intense low-frequency sound transiently biases human sound lateralisation. [PDF]

PLoS One
Jurado C, Grothe B, Drexl M.
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source