Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
about
CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.Mutation in an alternative transcript of CDKL5 in a boy with early onset seizures.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
P2860
Q33707253-9705FA82-D659-46F3-8D6C-6414D6D89D5DQ38566303-9D51AE7F-C4B6-4BB0-B973-5163BE96E7E7Q39136036-2309310F-8DAD-4D18-9A81-FD9E77FFE798Q39172712-AEBD09B7-E23D-411E-ABB3-2B62026C109BQ47968759-E822C92C-6E6F-4943-878F-ED28478A3F97Q52695037-8876CBEF-F928-43B0-93BF-041DFD47BB44Q55022100-E3516DD2-C538-4D33-995F-58879C539B76
P2860
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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name
Optimizing the molecular diagn ...... leptic encephalopathy in boys.
@en
Optimizing the molecular diagn ...... leptic encephalopathy in boys.
@nl
type
label
Optimizing the molecular diagn ...... leptic encephalopathy in boys.
@en
Optimizing the molecular diagn ...... leptic encephalopathy in boys.
@nl
prefLabel
Optimizing the molecular diagn ...... leptic encephalopathy in boys.
@en
Optimizing the molecular diagn ...... leptic encephalopathy in boys.
@nl
P2093
P2860
P50
P356
P1433
P1476
Optimizing the molecular diagn ...... leptic encephalopathy in boys.
@en
P2093
Bernardo Dalla Bernardina
Carla Marini
Laura Chiti
Renzo Guerrini
P2860
P304
P356
10.1111/EPI.12803
P577
2014-09-29T00:00:00Z