Clinical utility gene card for: Meckel syndrome

European Journal of Human Genetics

Volumn 19, Issue 7, 2011, Pages 832-

  Salonen, R ^a   Kestila M ^b   Bergmann, C ^c  

^a Department of Medical Genetics Väestöliitto ^*  (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c Center for Human Genetics   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ANALYTIC METHOD; ARTICLE; CHROMOSOME; CLINICAL UTILITY GENE CARD; CODING; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; ECHOGRAPHY; ETHNIC GROUP; EXON; GENE; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RISK; HEALTH CARE UTILIZATION; HUMAN; INCIDENCE; MECKEL SYNDROME; MEDICAL INFORMATION; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PREDICTIVE VALUE; PREGNANCY; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; RNA SPLICING; SENSITIVITY AND SPECIFICITY; VALIDATION STUDY; CILIARY DYSKINESIA; ENCEPHALOCELE; GENETIC SCREENING; GENETICS; KIDNEY POLYCYSTIC DISEASE;

CILIARY MOTILITY DISORDERS; ENCEPHALOCELE; GENETIC TESTING; HUMANS; POLYCYSTIC KIDNEY DISEASES; PRENATAL DIAGNOSIS;

EID: 79959253971     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.255     Document Type: Article

References (17)

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