Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
about
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic functionNovel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing lossUnresolved questions regarding human hereditary deafness.TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.
P2860
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
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Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@ast
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@en
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
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label
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@ast
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@en
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@nl
prefLabel
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@ast
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@en
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@nl
P2093
P2860
P3181
P1433
P1476
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
@en
P2093
Abdelhamid Barakat
Amina Bakhchane
Halima Nahili
Majida Charif
Rachida Roky
Redouane Boulouiz
Sara Salime
P2860
P304
P3181
P356
10.1371/JOURNAL.PONE.0138072
P407
P50
P577
2015-01-01T00:00:00Z