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F L Raymond

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Journal of Medical Genetics|September 6, 2005

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplificationJ Douglas, K Tatton-Brown, K Coleman, et al.

Journal of Medical Genetics|October 28, 2017

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.

Journal of Medical Genetics|March 16, 2007

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational studyOliver W J Quarrell, Alan S Rigby, L Barron, et al.

Journal of Medical Genetics|November 14, 1997

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.

Molecular Psychiatry|July 27, 2016

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.

Molecular Psychiatry|September 2, 2018

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.

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Search research articles

Showing results (21-30 of 26) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 26 results.

Journal of Medical Genetics|September 6, 2005

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplificationJ Douglas, K Tatton-Brown, K Coleman, et al.

Journal of Medical Genetics|October 28, 2017

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.

Journal of Medical Genetics|March 16, 2007

Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational studyOliver W J Quarrell, Alan S Rigby, L Barron, et al.

Journal of Medical Genetics|November 14, 1997

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.

Molecular Psychiatry|July 27, 2016

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.

Molecular Psychiatry|September 2, 2018

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disabilityS Riazuddin, M Hussain, A Razzaq, et al.

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