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Nature Reviews. Genetics
|
June 29, 2023
Genomic newborn screening for rare diseases
Zornitza Stark, Richard H Scott
Human Molecular Genetics
|
September 26, 2007
Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players
Nazneen Rahman, Richard H Scott
Journal of Inherited Metabolic Disease
|
December 27, 2023
Whole genome sequencing to screen 100 000 newborns for treatable genetic disorders
Shamima Rahman, David Bick, Richard H Scott
Archives of Disease in Childhood. Education and Practice Edition
|
June 1, 2013
What is array CGH?
Shereen Tadros, Deborah Morrogh, Richard H Scott
BMJ Case Reports
|
September 24, 2015
7q11.23-q21.2 Microdeletion is associated with moderate structural brain abnormalities and global developmental delay: first report
George T Vasileiadis, Jennifer Carter, Richard H Scott
Lancet (London, England)
|
August 10, 2019
Genomic medicine: time for health-care transformation
Richard H Scott, Tom A Fowler, Mark Caulfield
Clinical Dysmorphology
|
August 31, 2016
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings
Shereen Tadros, Richard H Scott, Alistair D Calder, et al.
Clinical Dysmorphology
|
December 5, 2013
The postnatal features of bent bone dysplasia-FGFR2 type
Richard H Scott, Cathy Meaney, Lucy Jenkins, et al.
Familial Cancer
|
January 8, 2010
A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma
Fatemeh Abbaszadeh, Karen T Barker, Carmel McConville, et al.
Nature Clinical Practice. Oncology
|
January 30, 2007
Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations
Richard H Scott, Sahar Mansour, Kathryn Pritchard-Jones, et al.
Page
of 6
Search research articles
Search
Showing results (1-10 of 56) with videos related to
Sort By:
Page
of 6
Nature Reviews. Genetics
|
June 29, 2023
Genomic newborn screening for rare diseases
Zornitza Stark, Richard H Scott
Human Molecular Genetics
|
September 26, 2007
Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players
Nazneen Rahman, Richard H Scott
Journal of Inherited Metabolic Disease
|
December 27, 2023
Whole genome sequencing to screen 100 000 newborns for treatable genetic disorders
Shamima Rahman, David Bick, Richard H Scott
Archives of Disease in Childhood. Education and Practice Edition
|
June 1, 2013
What is array CGH?
Shereen Tadros, Deborah Morrogh, Richard H Scott
BMJ Case Reports
|
September 24, 2015
7q11.23-q21.2 Microdeletion is associated with moderate structural brain abnormalities and global developmental delay: first report
George T Vasileiadis, Jennifer Carter, Richard H Scott
Lancet (London, England)
|
August 10, 2019
Genomic medicine: time for health-care transformation
Richard H Scott, Tom A Fowler, Mark Caulfield
Clinical Dysmorphology
|
August 31, 2016
Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings
Shereen Tadros, Richard H Scott, Alistair D Calder, et al.
Clinical Dysmorphology
|
December 5, 2013
The postnatal features of bent bone dysplasia-FGFR2 type
Richard H Scott, Cathy Meaney, Lucy Jenkins, et al.
Familial Cancer
|
January 8, 2010
A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma
Fatemeh Abbaszadeh, Karen T Barker, Carmel McConville, et al.
Nature Clinical Practice. Oncology
|
January 30, 2007
Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations
Richard H Scott, Sahar Mansour, Kathryn Pritchard-Jones, et al.
Page
of 6