Literature DB >> 17099356

It does matter: the importance of making the diagnosis of a genetic syndrome.

Nathaniel H Robin.   

Abstract

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Year:  2006        PMID： 17099356     DOI： 10.1097/01.mop.0000247536.78273.78

Source DB:  PubMed          Journal:  Curr Opin Pediatr        ISSN： 1040-8703            Impact factor:   2.856


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  4 in total

1.  Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Authors:  G Costain; E W C Chow; P N Ray; A S Bassett
Journal:  J Intellect Disabil Res       Date:  2011-12-06

2.  Approach and solutions to congenital hearing impairment in Cameroon: perspective of hearing professionals.

Authors:  Emmanuel Choffor-Nchinda; Jean Valentin Fokouo Fogha; Adèle-Rose Ngo Nyeki; Asmaou Bouba Dalil; Roger Christian Meva'a Biouélé; Geschiere Peter Me-Meke
Journal:  Trop Med Health       Date:  2022-05-30

3.  Genome-wide sequencing technologies: A primer for paediatricians.

Authors:  Robin Z Hayeems; Kym M Boycott
Journal:  Paediatr Child Health       Date:  2017-12-02       Impact factor: 2.253

Review 4.  An approach to pediatric exome and genome sequencing.

Authors:  Leslie G Biesecker; Barbara B Biesecker
Journal:  Curr Opin Pediatr       Date:  2014-12       Impact factor: 2.856
  4 in total

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