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

No impact of adult attachment and temperament on clinical variability in patients with clinically isolated syndrome and early multiple sclerosis

2013 ◽  
Vol 115 (3) ◽  
pp. 293-297 ◽  
Author(s):  
Christian Fazekas ◽  
Michael Khalil ◽  
Christian Enzinger ◽  
Franziska Matzer ◽  
Siegrid Fuchs ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Adult Attachment ◽  
Clinically Isolated Syndrome ◽  
Clinical Variability

scholarly journals Sporadic and familial glut1ds Italian patients: A wide clinical variability

Seizure ◽  
2015 ◽  
Vol 24 ◽  
pp. 28-32 ◽  
Author(s):  
Valentina De Giorgis ◽  
Federica Teutonico ◽  
Cristina Cereda ◽  
Umberto Balottin ◽  
Marika Bianchi ◽  
...  
Keyword(s):  
Clinical Variability

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

2008 ◽  
Vol 33 (5) ◽  
pp. 331-348 ◽  
Author(s):  
Marie T. Vanier ◽  
David A. Wenger ◽  
Marcella E. Comly ◽  
Robert Rousson ◽  
Roscoe O. Brady ◽  
...  
Keyword(s):  
Collaborative Study ◽  
Cholesterol Esterification ◽  
Disease Group ◽  
Clinical Variability ◽  
Niemann Pick Disease ◽  
Niemann Pick ◽  
Pick Disease

MASA syndrome: Clinical variability and linkage analysis

1991 ◽  
Vol 41 (1) ◽  
pp. 10-14 ◽  
Author(s):  
M. Rietschel ◽  
W. Friedl ◽  
S. Uhlhaas ◽  
M. Neugebauer ◽  
D. Heimann ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Clinical Variability

Clinical variability of children with anti-N-methyl-d-aspartate receptor encephalitis in southern Brazil: a cases series and review of the literature

2018 ◽  
Vol 40 (2) ◽  
pp. 351-356 ◽  
Author(s):  
Daniel Almeida do Valle ◽  
Joselainy Stela Pires Galeazzi ◽  
Mayara de Rezende Machado ◽  
Vanessa Catarine Silva Abreu Ribeir dos Santos ◽  
Alcir Francisco da Silva ◽  
...  
Keyword(s):  
Southern Brazil ◽  
Review Of The Literature ◽  
Clinical Variability ◽  
Aspartate Receptor

ATP 6V0A2 ‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

2018 ◽  
Vol 28 (10) ◽  
pp. 1142-1145 ◽  
Author(s):  
Aude Beyens ◽  
Ester Moreno‐Artero ◽  
Christine Bodemer ◽  
Helen Cox ◽  
Alper Gezdirici ◽  
...  
Keyword(s):  
Cutis Laxa ◽  
Clinical Variability
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