clinical variability
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scholarly journals Clinical variability at the mild end of BRAT1 ‐related spectrum: evidence from two families with genotype‐phenotype discordance

2021 ◽  
Author(s):  
Sara Nuovo ◽  
Valentina Baglioni ◽  
Roberta De Mori ◽  
Silvia Tardivo ◽  
Caterina Caputi ◽  
...  
Keyword(s):  
Clinical Variability

Clinical variability and the role of diagnostic criteria of cerebral amyloid angiopathy-related inflammation (CAA-RI): A case series

2021 ◽  
Vol 429 ◽  
pp. 118793
Author(s):  
Fulvio Pasquin ◽  
Valentina Tommasini ◽  
Alessandro Dinoto ◽  
Francesco Biaduzzini ◽  
Laura D'Acunto ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Cerebral Amyloid Angiopathy ◽  
Case Series ◽  
Amyloid Angiopathy ◽  
Clinical Variability ◽  
Cerebral Amyloid

scholarly journals DELETERIOUS “SHIFT” IN FUNCTIONAL PERFORMANCE EXPLAINS CLINICAL VARIABILITY IN RARE GENETIC NEURODEVELOPMENTAL PSYCHIATRIC DISORDERS

2021 ◽  
Vol 51 ◽  
pp. e38
Author(s):  
David Ledbetter ◽  
Brenda Finucane ◽  
Cora Taylor ◽  
Andres Morena de Luca ◽  
Scott Myers ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Functional Performance ◽  
Clinical Variability

scholarly journals Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

JIMD Reports ◽  
2021 ◽  
Author(s):  
Malak A. Alghamdi ◽  
Mohammed Tohary ◽  
Hamad Alzaidan ◽  
Faiqa Imtiaz ◽  
Zuhair N. Al‐Hassnan
Keyword(s):  
Clinical Variability ◽  
Coa Transferase ◽  
Transferase Deficiency

scholarly journals Role of adaptive immunity in clinical variability of active tuberculosis patients

2021 ◽  
Author(s):  
Carla Maria Irene Quarato ◽  
Giulia Scioscia ◽  
Donato Lacedonia ◽  
Karin Del Vecchio ◽  
Antonio Laricchiuta ◽  
...  
Keyword(s):  
Adaptive Immunity ◽  
Active Tuberculosis ◽  
Tuberculosis Patients ◽  
Clinical Variability

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings

2021 ◽  
Author(s):  
Alessandra D'Amico ◽  
Carmen Rosano ◽  
Luca Pannone ◽  
Valentina Pinna ◽  
Antonia Assunto ◽  
...  
Keyword(s):  
Brain Mri ◽  
Neurofibromatosis 1 ◽  
Mri Findings ◽  
Clinical Variability
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