Proof-of-principle neural network models for classification, attribution, creation, style-mixing, and morphing of image data for genetic conditions
Neural networks have shown strong potential to aid the practice of healthcare. Mainly due to
the need for large datasets, these applications have focused on common medical …
the need for large datasets, these applications have focused on common medical …
Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis
N Bałdyga, A Sarosiak, D Oziębło… - Audiology and …, 2021 - karger.com
Background: Genetically determined prelingual hearing loss (HL) may occur in an isolated
or syndromic form. Objective: The aim of the study was to unravel the genetic cause of …
or syndromic form. Objective: The aim of the study was to unravel the genetic cause of …
Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen
T Scholz, A Dufke, T Haack, M Elbracht… - Monatsschrift …, 2022 - Springer
Der Erkrankungsbeginn der aktuell über 8000 bekannten „seltenen Erkrankungen “(„orphan
diseases “) liegt zumeist im Kindesalter. Die Diagnosestellung in diesem Alter ist …
diseases “) liegt zumeist im Kindesalter. Die Diagnosestellung in diesem Alter ist …
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network
Report the prevalence of multiple genetic diseases in the Undiagnosed Diseases Network
(UDN) cohort in the post‐exome‐sequencing era. UDN subjects underwent genome …
(UDN) cohort in the post‐exome‐sequencing era. UDN subjects underwent genome …
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
A Strong, C Skraban, K Meyers… - American Journal of …, 2021 - Wiley Online Library
Heritable connective tissue disorders are a group of diseases, each rare, characterized by
various combinations of skin, joint, musculoskeletal, organ, and vascular involvement …
various combinations of skin, joint, musculoskeletal, organ, and vascular involvement …
LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
K Muthusamy, MM Mrugala, BR Bendok… - Molecular Genetics & …, 2021 - Wiley Online Library
Background Dual diagnoses in genetics practice are not uncommon and patients with dual
diagnosis often present with complex and challenging phenotypes. A combination of …
diagnosis often present with complex and challenging phenotypes. A combination of …
[PDF][PDF] Dual genetic diagnoses-underappreciated 'double trouble'
C Beetz, P Bauer - Journal of Biochemical and Clinical Genetics, 2020 - jbcgenetics.com
Dual genetic diagnoses - underappreciated “double trouble” Page 1 Journal of Biochemical
and Clinical Genetics OPEN ACCESS OPEN ACCES OPEN ACCESS 52 This is an open …
and Clinical Genetics OPEN ACCESS OPEN ACCES OPEN ACCESS 52 This is an open …
[PDF][PDF] Más allá del análisis del cromosoma: La práctica de pruebas genéticas adicionales en una Clínica Síndrome de Down
A Harisinghani, G Raffaele, CB Zawatsky… - Revista Síndrome de …, 2023 - dialnet.unirioja.es
ABSTRACT I Down syndrome (DS) and other genetic conditions have been reported to co-
occur in the same person. This study sought to examine the genetic evaluation beyond …
occur in the same person. This study sought to examine the genetic evaluation beyond …
Occam's razor dulled: the occurrence of multiple genetic diagnoses
KB Linscott, JA Cassady, NH Robin - Current Opinion in …, 2021 - journals.lww.com
Identifying a second diagnosis can have vast implications for patient management and
counseling. Patients can be followed with appropriate medical screening and early …
counseling. Patients can be followed with appropriate medical screening and early …