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12篇 您的检索式:作者名="Rehm HL"
    题名 作者 年代 出处 被引量
1Inherited cardiomyopathies:molecular genetics and clinical genetic testing in the postgenomic era显示文摘Teekakirikul P Kelly MA Rehm HL 2013J Mol Diagn2013,15,:1
2Temporal boneabnonnali ties in children with GJB2 mutations 显示文摘Kenna MA Rehm HL Frangulov A 2011Laryngoscope2011,121,3:1
3Temporal boneabnormalities in children with GJB2 mutations显示文摘Kenna MA Rehm HL Frangulov A 2011Laryngoscope2011,121,:1
4Disease-targeted sequencing: a cornerstone in the clinic显示文摘Rehm HL 2013Nat Rev Genet2013,14,4:1
5Shared genetic causes of cardiac hypertrophy in children and adults 显示文摘Morita H Rehm HL Menesses A 2008N Engl J Med2008,358,18:1
6ACMG clinical laboratory standards for nextgenerationsequencing 显示文摘REHM HL BALE SJ BAYRAK-TOYDEMIR P 2013Genet Med2013,15,9:1
7Shared genetic causes of cardiac hypertrophy in children and adults显示文摘Morita H Rehm HL Menesses A 2008N Engl J Med2008,358,18:1
8Vascular defects and sensorineural deafness in a mouse model of Norrie disease显示文摘Rehm HL Zhang DS Brown MC 2002J Neurosci2002,22,:1
9Genome-wide SNP geno-typing identifies the Stereocilin (STRC) gene as a major contribu-tor to pediatric bilateral sensorineural hearing impairment显示文摘Francey LJ Conlin LK Kadesch HE Clark D Berrodin D Sun Y Glessner J Hakonarson H Jalas C Landau C Spinner NB Kenna M Sagi M Rehm HL Krantz ID 0,,02:1
10Inherited Cardiomyopa- thies : Molecular Genetics and Clinical Genetic Testing in the Post- genomic Era 显示文摘Teekakirikul P Kelly MA Rehm HL 2013Journal of Molecular Diagnostics Jmd2013,15,2:1
11Vascular detects and senso-rineural deafness in a mouse model ofNorrie disease 显示文摘Rehm HL Zhang DS Brown MC 2002J Neurosci2002,22,11:1
12ACMG clinicallaboratory standards for next-generation sequencing 显示文摘Rehm HL Bale SJ Bayrak-Toydemir P 2013GenetMed2013,15,9:1
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