Molecular Diagnosis of Deafness
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portes grátis
Molecular Diagnosis of Deafness
Usami, Shin-ichi
Springer Verlag, Japan
01/2025
150
Dura
Inglês
9784431541738
Pré-lançamento - envio 15 a 20 dias após a sua edição
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?.- Chapter 1: Molecular Diagnosis of Deafness: Impact of Gene Identification.
?.- Chapter 2: Genetic Epidemiology of Deafness Genes and Clinical Application:Comparison with the mutation spectrum and screening strategy.
?.- Chapter 3: Clinical Application.
3.1. Non-syndromic Hearing Loss.
3.1.1 GJB2
3.1.2 SLC26A4
3.1.2 Mitochondria 1555
3.1.3 Mitochondria 3243
3.1.4 CDH23
3.1.5 TECTA
3.1.6 KCNQ43.2. Syndromic Hearing Loss.
3.2.1 BOR Syndrome (EYA1)
3.2.2 Usher Syndrome (MYO7A, CDH23, PCDH15, USH2A, etc)
3.2.3 Pendred Syndrome (SLC26A4)
3.2.4 SYM1, SYNS1 (NOG)
?.- Chapter 4: Genetic Testing and Cochlear Implantation.
?.- Chapter 5: Genetic Counseling.
?.- Chapter 6: Future Direction.
?.- Chapter 2: Genetic Epidemiology of Deafness Genes and Clinical Application:Comparison with the mutation spectrum and screening strategy.
?.- Chapter 3: Clinical Application.
3.1. Non-syndromic Hearing Loss.
3.1.1 GJB2
3.1.2 SLC26A4
3.1.2 Mitochondria 1555
3.1.3 Mitochondria 3243
3.1.4 CDH23
3.1.5 TECTA
3.1.6 KCNQ43.2. Syndromic Hearing Loss.
3.2.1 BOR Syndrome (EYA1)
3.2.2 Usher Syndrome (MYO7A, CDH23, PCDH15, USH2A, etc)
3.2.3 Pendred Syndrome (SLC26A4)
3.2.4 SYM1, SYNS1 (NOG)
?.- Chapter 4: Genetic Testing and Cochlear Implantation.
?.- Chapter 5: Genetic Counseling.
?.- Chapter 6: Future Direction.
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Cochlear implantation;Deafness genes;Genetic counseling;Genetic testing;Hearing loss
?.- Chapter 1: Molecular Diagnosis of Deafness: Impact of Gene Identification.
?.- Chapter 2: Genetic Epidemiology of Deafness Genes and Clinical Application:Comparison with the mutation spectrum and screening strategy.
?.- Chapter 3: Clinical Application.
3.1. Non-syndromic Hearing Loss.
3.1.1 GJB2
3.1.2 SLC26A4
3.1.2 Mitochondria 1555
3.1.3 Mitochondria 3243
3.1.4 CDH23
3.1.5 TECTA
3.1.6 KCNQ43.2. Syndromic Hearing Loss.
3.2.1 BOR Syndrome (EYA1)
3.2.2 Usher Syndrome (MYO7A, CDH23, PCDH15, USH2A, etc)
3.2.3 Pendred Syndrome (SLC26A4)
3.2.4 SYM1, SYNS1 (NOG)
?.- Chapter 4: Genetic Testing and Cochlear Implantation.
?.- Chapter 5: Genetic Counseling.
?.- Chapter 6: Future Direction.
?.- Chapter 2: Genetic Epidemiology of Deafness Genes and Clinical Application:Comparison with the mutation spectrum and screening strategy.
?.- Chapter 3: Clinical Application.
3.1. Non-syndromic Hearing Loss.
3.1.1 GJB2
3.1.2 SLC26A4
3.1.2 Mitochondria 1555
3.1.3 Mitochondria 3243
3.1.4 CDH23
3.1.5 TECTA
3.1.6 KCNQ43.2. Syndromic Hearing Loss.
3.2.1 BOR Syndrome (EYA1)
3.2.2 Usher Syndrome (MYO7A, CDH23, PCDH15, USH2A, etc)
3.2.3 Pendred Syndrome (SLC26A4)
3.2.4 SYM1, SYNS1 (NOG)
?.- Chapter 4: Genetic Testing and Cochlear Implantation.
?.- Chapter 5: Genetic Counseling.
?.- Chapter 6: Future Direction.
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
