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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
by
Assoum, Mirna
,
Philippe, Christophe
,
Isidor, Bertrand
,
Perrin, Laurence
,
Makrythanasis, Periklis
,
Sondheimer, Neal
,
Paris, Caroline
,
Douglas, Jessica
,
Lesca, Gaetan
,
Antonarakis, Stylianos
,
Hamamy, Hanan
,
Jouan, Thibaud
,
Duffourd, Yannis
,
Auvin, Stéphane
,
Saunier, Aline
,
Begtrup, Amber
,
Nowak, Catherine
,
Chatron, Nicolas
,
Ville, Dorothée
,
Mireskandari, Kamiar
,
Milani, Paolo
,
Jonveaux, Philippe
,
Lemeur, Guylène
,
Milh, Mathieu
,
Amamoto, Masano
,
Kato, Mitsuhiro
,
Nakashima, Mitsuko
,
Miyake, Noriko
,
Matsumoto, Naomichi
,
Masri, Amira
,
Thauvin-Robinet, Christel
,
Rivière, Jean-Baptiste
,
Faivre, Laurence
,
Thevenon, Julien
Published in
American journal of human genetics
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Cas clinique no 3
by
Kuster, Alice
,
Laugwitz, Lucia
,
Lemeur, Guylene
,
Pereon, Yann
,
Bekri, Soumeya
,
Haack, Tobias
Published in
Revue neurologique
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American Journal Of Human Genetics
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Revue Neurologique
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Subjects
Life Sciences
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Adaptor Protein Complex 3 - Genetics
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Adaptor Protein Complex Beta Subunits - Genetics
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Age Of Onset
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Ap3B2
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Child
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Child, Preschool
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Convulsions & Seizures
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Cytopathie Mitochondriale
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Developmental Delay
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Developmental Disabilities - Genetics
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Electroencephalography
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Eoee Syndrome
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Epilepsy
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Epilepsy - Complications
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Epilepsy - Genetics
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Female
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Genes, Recessive - Genetics
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Genetics & Heredity
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Genotype & Phenotype
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Sciencedirect Journals
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Bacon - Elsevier - Global Sciencedirect-Openaccess
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Sciencedirect Freedom Collection
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Ezb Electronic Journals Library
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Open Access: Pubmed Central
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