47 patients with FLNA associated periventricular nodular heterotopia
about
Lung Transplantation for FLNA-Associated Progressive Lung Disease.Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy.Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation.Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.Androgen receptor dysfunction as a prevalent manifestation in young male carriers of a FLNA gene mutation.FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
P2860
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P2860
47 patients with FLNA associated periventricular nodular heterotopia
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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name
47 patients with FLNA associated periventricular nodular heterotopia
@ast
47 patients with FLNA associated periventricular nodular heterotopia
@en
type
label
47 patients with FLNA associated periventricular nodular heterotopia
@ast
47 patients with FLNA associated periventricular nodular heterotopia
@en
prefLabel
47 patients with FLNA associated periventricular nodular heterotopia
@ast
47 patients with FLNA associated periventricular nodular heterotopia
@en
P2093
P2860
P1476
47 patients with FLNA associated periventricular nodular heterotopia
@en
P2093
Ana Beleza-Meireles
Andreas Ferbert
Andreas Hahn
Anne Behnecke
Axel Bohring
Barbara Oehl-Jaschkowitz
Burkhard Kasper
Frank Rutsch
Franziska Mueller
Gerhard Kluger
P2860
P2888
P356
10.1186/S13023-015-0331-9
P577
2015-10-15T00:00:00Z
P5875
P6179
1011302780