Characterisation and genetic mapping of a new X linked deafness syndrome.
about
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorderEthical issues in neonatal and pediatric clinical trials.X-linked mental retardation (XLMR): from clinical conditions to cloned genes.A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report.
P2860
Characterisation and genetic mapping of a new X linked deafness syndrome.
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2000 nî lūn-bûn
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2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Characterisation and genetic mapping of a new X linked deafness syndrome.
@ast
Characterisation and genetic mapping of a new X linked deafness syndrome.
@en
Characterisation and genetic mapping of a new X linked deafness syndrome.
@nl
type
label
Characterisation and genetic mapping of a new X linked deafness syndrome.
@ast
Characterisation and genetic mapping of a new X linked deafness syndrome.
@en
Characterisation and genetic mapping of a new X linked deafness syndrome.
@nl
prefLabel
Characterisation and genetic mapping of a new X linked deafness syndrome.
@ast
Characterisation and genetic mapping of a new X linked deafness syndrome.
@en
Characterisation and genetic mapping of a new X linked deafness syndrome.
@nl
P2093
P2860
P356
P1476
Characterisation and genetic mapping of a new X linked deafness syndrome.
@en
P2093
D M Martin
F J Probst
S A Camper
P2860
P304
P356
10.1136/JMG.37.11.836
P407
P577
2000-11-01T00:00:00Z