scholarly journals Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy

2020 ◽  
Vol 8 (8) ◽  
Author(s):  
Mathieu Cerino ◽  
Chloé Di Meglio ◽  
Francesca Albertini ◽  
Frédérique Audic ◽  
Florence Riccardi ◽  
...  
Keyword(s):  
Congenital Myopathy ◽  
Congenital Form ◽  
Phenotypic Spectrum

P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy

2019 ◽  
Vol 29 ◽  
pp. S136-S137
Author(s):  
R. Villar-Quiles ◽  
I. Duband-Goulet ◽  
E. Cabet ◽  
L. Davignon ◽  
C. Genetti ◽  
...  
Keyword(s):  
Congenital Myopathy ◽  
Phenotypic Spectrum

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  
Keyword(s):  
Rapid Onset ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum

Phenotypic spectrum in Weyers acrofacial dysostosis: A case report

2017 ◽  
Author(s):  
Chiara Rubino ◽  
Stefano Stagi ◽  
Chiara Petrolini ◽  
Daniela Gioe ◽  
Spina Luisa La ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotypic Spectrum

Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia

2003 ◽  
Vol 166 (1) ◽  
pp. 177-185 ◽  
Author(s):  
Takao Maruyama ◽  
Naohiko Sakai ◽  
Masato Ishigami ◽  
Ken-ichi Hirano ◽  
Takeshi Arai ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Cholesteryl Ester Transfer Protein ◽  
Protein Gene ◽  
Gene Mutations ◽  
Transfer Protein ◽  
Phenotypic Spectrum

Mutation and Phenotypic Spectrum of Patients With RASopathies

2020 ◽  
Vol 58 (1) ◽  
pp. 30-33
Author(s):  
Meenakshi Lallar ◽  
Sunita Bijarnia-Mahay ◽  
I. C. Verma ◽  
Kaushik Mandal ◽  
Ratna Dua Puri
Keyword(s):  
Phenotypic Spectrum ◽  
Spectrum Of Patients

Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood

2021 ◽  
Vol 185 (5) ◽  
pp. 1606-1609
Author(s):  
Sweta Das ◽  
Koumudi Godbole ◽  
Suneetha Susan Cleave Abraham ◽  
Paramasivam Ganesan ◽  
Payal Kamdar ◽  
...  
Keyword(s):  
Phenotypic Spectrum ◽  
Indian Patients ◽  
Syndrome Report
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