Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L

2003 ◽  
Vol 25 (2) ◽  
pp. 116-121 ◽  
Author(s):  
Naohide Shiroma ◽  
Naomi Kanazawa ◽  
Zenichiro Kato ◽  
Nobuyuki Shimozawa ◽  
Atsushi Imamura ◽  
...  
Keyword(s):  
Genetic Study ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Japanese Patients ◽  
Alexander Disease ◽  
Molecular Genetic Study

Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation

2018 ◽  
Vol 120 (3) ◽  
pp. 3367-3372 ◽  
Author(s):  
Azam Ahmadi Shadmehri ◽  
Najmeh Fattahi ◽  
Mohammad Reza Pourreza ◽  
Mahboobeh Koohiyan ◽  
Shahnaz Zarifi ◽  
...  
Keyword(s):  
Genetic Study ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Molecular Genetic Study ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Dedifferentiated endometrial carcinomas with neuroendocrine features: a clinicopathologic, immunohistochemical, and molecular genetic study

2018 ◽  
Vol 72 ◽  
pp. 100-106 ◽  
Author(s):  
Iñigo Espinosa ◽  
Antonio De Leo ◽  
Emanuela D'Angelo ◽  
Juan M. Rosa-Rosa ◽  
Marina Corominas ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Endometrial Carcinomas

scholarly journals Erratum: Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study

2000 ◽  
Vol 13 (12) ◽  
pp. 1336-1346 ◽  
Author(s):  
Maureen J O'Sullivan ◽  
Michael Kyriakos ◽  
Xiaopei Zhu ◽  
Mark R Wick ◽  
Paul E Swanson ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Nerve Sheath Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath

A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

2003 ◽  
Vol 25 (5) ◽  
pp. 362-366 ◽  
Author(s):  
Harumi Saijo ◽  
Harumi Nakayama ◽  
Takanori Ezoe ◽  
Katsuhito Araki ◽  
Sui Sone ◽  
...  
Keyword(s):  
Genetic Study ◽  
Molecular Genetic ◽  
Molecular Genetic Study ◽  
Subcortical Cysts
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