Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Journal of Inherited Metabolic Disease

Volumn 41, Issue 3, 2018, Pages 533-539

  Pantel, Jean T ^a,b   Zhao, Max ^a,b   Mensah, Martin A ^a   Hajjir, Nurulhuda ^a   Hsieh, Tzung Chien ^a,b   Hanani, Yair ^c   Fleischer, Nicole ^c   Kamphans, Tom ^d   Mundlos, Stefan ^a   Gurovich, Yaron ^c   Krawitz, Peter M ^a,b,d  

^a BERLIN INSTITUTE OF HEALTH   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

^c Mercedes Benz rDNA   (United States)

^d GeneTalk   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; AGE DISTRIBUTION; ARTICLE; BENCHMARKING; CHILD; CLASSIFIER; COHORT ANALYSIS; CONCEPTUAL FRAMEWORK; CONFOUNDING VARIABLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; ETHNIC DIFFERENCE; FACE DYSMORPHIA; FACIAL RECOGNITION; FEMALE; GENETIC RESOURCE; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; MEASUREMENT ACCURACY; MUCOLIPIDOSIS; NICOLAIDES BARAITSER SYNDROME; PHENOTYPE; POPULATION SIZE; PRESCHOOL CHILD; SCHOOL CHILD; SEX RATIO; SMITH LEMLI OPITZ SYNDROME; ADOLESCENT; ALGORITHM; FACIES; FOOT MALFORMATION; HYPOTRICHOSIS; IMAGE PROCESSING; INTELLECTUAL IMPAIRMENT; METABOLISM; MOLECULAR DIAGNOSIS; PATHOLOGY; PROCEDURES; SYNDROME;

ADOLESCENT; ALGORITHMS; CHILD; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; HUMANS; HYPOTRICHOSIS; IMAGE PROCESSING, COMPUTER-ASSISTED; INTELLECTUAL DISABILITY; MALE; METABOLISM, INBORN ERRORS; MOLECULAR DIAGNOSTIC TECHNIQUES; PHENOTYPE; SMITH-LEMLI-OPITZ SYNDROME; SYNDROME;

EID: 85045049615     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-018-0174-3     Document Type: Article

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