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Journal of the National Cancer Institute
|
March 2, 2006
PMS2 mutations in childhood cancer
Michel De Vos, Bruce E Hayward, Ruth Charlton, et al.
Internal Medicine Journal
|
April 3, 2018
Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting
Belinda Lee, Ben Tran, Arthur L Hsu, et al.
American Journal of Human Genetics
|
November 10, 2009
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
Mohammad R Abdollahi, Ewan Morrison, Tamara Sirey, et al.
Nucleic Acids Research
|
June 8, 2010
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
Henry M Wood, Ornella Belvedere, Caroline Conway, et al.
American Journal of Human Genetics
|
September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
David A Parry, Clare V Logan, Bruce E Hayward, et al.
Human Molecular Genetics
|
November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Kamron Khan, Clare V Logan, Martin McKibbin, et al.
Nature Genetics
|
November 22, 2011
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Clare V Logan, Barbara Lucke, Caroline Pottinger, et al.
American Journal of Human Genetics
|
August 21, 2012
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta
David A Parry, Steven J Brookes, Clare V Logan, et al.
JCO Precision Oncology
|
February 1, 2022
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE Study
Olga Kondrashova, Gwo-Yaw Ho, George Au-Yeung, et al.
American Journal of Human Genetics
|
September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
Kamron Khan, Adam Rudkin, David A Parry, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 35) with videos related to
Sort By:
Page
of 4
Journal of the National Cancer Institute
|
March 2, 2006
PMS2 mutations in childhood cancer
Michel De Vos, Bruce E Hayward, Ruth Charlton, et al.
Internal Medicine Journal
|
April 3, 2018
Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting
Belinda Lee, Ben Tran, Arthur L Hsu, et al.
American Journal of Human Genetics
|
November 10, 2009
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
Mohammad R Abdollahi, Ewan Morrison, Tamara Sirey, et al.
Nucleic Acids Research
|
June 8, 2010
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
Henry M Wood, Ornella Belvedere, Caroline Conway, et al.
American Journal of Human Genetics
|
September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
David A Parry, Clare V Logan, Bruce E Hayward, et al.
Human Molecular Genetics
|
November 10, 2011
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Kamron Khan, Clare V Logan, Martin McKibbin, et al.
Nature Genetics
|
November 22, 2011
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Clare V Logan, Barbara Lucke, Caroline Pottinger, et al.
American Journal of Human Genetics
|
August 21, 2012
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta
David A Parry, Steven J Brookes, Clare V Logan, et al.
JCO Precision Oncology
|
February 1, 2022
Clinical Utility of Real-Time Targeted Molecular Profiling in the Clinical Management of Ovarian Cancer: The ALLOCATE Study
Olga Kondrashova, Gwo-Yaw Ho, George Au-Yeung, et al.
American Journal of Human Genetics
|
September 13, 2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
Kamron Khan, Adam Rudkin, David A Parry, et al.
Page
of 4