The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Item
http://www.wikidata.org/entity/Q39621984
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1Fetal magnetic resonance imaging (MRI): a tool for a better understanding of normal and abnormal brain development.Fetal MRI: An approach to practice: A review.Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.Human genetic disorders of axon guidance.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Phosphoinositide phosphatases and disease.A developmental and genetic classification for midbrain-hindbrain malformations.Developmental disorders of the midbrain and hindbrain.Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome).Ataxia, hyperpnoea and mental retardation: was it the molar tooth?Malformations of cerebral cortical development in oral-facial-digital syndrome type VI.Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.Joubert syndrome: large clinical variability and a unique neuroimaging aspect.Expanding CEP290 mutational spectrum in ciliopathies
P2860

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Item
http://www.wikidata.org/entity/Q39621984
description
2008 nî lūn-bûn
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2008年の論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
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2008年論文
@zh-tw
2008年论文
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2008年论文
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2008年论文
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name
The molar tooth sign: a new Jo ...... m tested in Egyptian families.
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The molar tooth sign: a new Jo ...... m tested in Egyptian families.
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type
label
The molar tooth sign: a new Jo ...... m tested in Egyptian families.
@en
The molar tooth sign: a new Jo ...... m tested in Egyptian families.
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The molar tooth sign: a new Jo ...... m tested in Egyptian families.
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The molar tooth sign: a new Jo ...... m tested in Egyptian families.
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The molar tooth sign: a new Jo ...... m tested in Egyptian families.
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10.1212/01.WNL.0000277644.12087.FD
P407
P433
P478
P50
P577
P5875
P698