Lissencephaly: Expanded imaging and clinical classification.
about
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation.Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker SyndromeTubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker SyndromeDiagnostic value of partial exome sequencing in developmental disordersComprehensive genotype-phenotype correlation in lissencephaly
P2860
Q48132777-A7BC115E-3E86-466B-8AA1-AB797F23A929Q52578335-DA7C727E-5754-434C-B626-3803C793476DQ56231023-785E2C1B-5CE7-4EAD-AA53-E7F7F83FADA5Q56234418-A3E4F631-8B52-4D9C-BE07-2CB44B35820AQ57142382-A933A9B2-1A2A-42A0-9314-8A6D6BFCFF61Q57642074-BEF232B9-9CA5-4C8C-A0F2-0BCA5FC571C8Q58804647-AFF10B4B-9BF1-45CA-872D-F9D6BF6EC64C
P2860
Lissencephaly: Expanded imaging and clinical classification.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年学术文章
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2017年學術文章
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name
Lissencephaly: Expanded imaging and clinical classification.
@en
Lissencephaly: Expanded imaging and clinical classification.
@nl
type
label
Lissencephaly: Expanded imaging and clinical classification.
@en
Lissencephaly: Expanded imaging and clinical classification.
@nl
prefLabel
Lissencephaly: Expanded imaging and clinical classification.
@en
Lissencephaly: Expanded imaging and clinical classification.
@nl
P2093
P2860
P50
P356
P1476
Lissencephaly: Expanded imaging and clinical classification
@en
P2093
A James Barkovich
Carissa Olds
Ghayda M Mirzaa
Renzo Guerrini
Sara Chiari
P2860
P304
P356
10.1002/AJMG.A.38245
P407
P577
2017-04-25T00:00:00Z