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David R Fitzpatrick

Showing results (11-20 of 153) with videos related to

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Nature Reviews. Genetics|February 20, 2018
Paediatric genomics: diagnosing rare disease in childrenCaroline F Wright, David R FitzPatrick, Helen V Firth
RNA Biology|October 21, 2016
The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early developmentJulie Rodor, David R FitzPatrick, Eduardo Eyras, et al.
BMC Bioinformatics|July 21, 2014
Variant detection sensitivity and biases in whole genome and exome sequencingAlison M Meynert, Morad Ansari, David R FitzPatrick, et al.
Seminars in Immunology|March 2, 2005
DNA methylation and the expanding epigenetics of T cell lineage commitmentChristopher B Wilson, Karen W Makar, Maria Shnyreva, et al.
Clinical Dysmorphology|December 10, 2009
'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)Louise Harewood, Jean W Keeling, Judith A Fantes, et al.
International Immunology|June 1, 2002
The genes for perforin, granzymes A-C and IFN-gamma are differentially expressed in single CD8(+) T cells during primary activationAnne Kelso, Elaine O Costelloe, Barbara J Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reportingCaroline F Wright, David R FitzPatrick, James S Ware, et al.
Genetics in Medicine Open|September 30, 2024
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD studyRuth Y Eberhardt, Caroline F Wright, David R FitzPatrick, et al.
Development (Cambridge, England)|June 12, 2023
Characterization of an eye field-like state during optic vesicle organoid developmentLiusaidh J Owen, Jacqueline Rainger, Hemant Bengani, et al.
American Journal of Medical Genetics. Part A|March 3, 2005
Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3Sixto Garcia-Miñaur, Jacqueline Ramsay, Elizabeth Grace, et al.
Pageof 16

Showing results (11-20 of 153) with videos related to

Sort By:
Pageof 16
Nature Reviews. Genetics|February 20, 2018
Paediatric genomics: diagnosing rare disease in childrenCaroline F Wright, David R FitzPatrick, Helen V Firth
RNA Biology|October 21, 2016
The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early developmentJulie Rodor, David R FitzPatrick, Eduardo Eyras, et al.
BMC Bioinformatics|July 21, 2014
Variant detection sensitivity and biases in whole genome and exome sequencingAlison M Meynert, Morad Ansari, David R FitzPatrick, et al.
Seminars in Immunology|March 2, 2005
DNA methylation and the expanding epigenetics of T cell lineage commitmentChristopher B Wilson, Karen W Makar, Maria Shnyreva, et al.
Clinical Dysmorphology|December 10, 2009
'Crommelin-type' symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)Louise Harewood, Jean W Keeling, Judith A Fantes, et al.
International Immunology|June 1, 2002
The genes for perforin, granzymes A-C and IFN-gamma are differentially expressed in single CD8(+) T cells during primary activationAnne Kelso, Elaine O Costelloe, Barbara J Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 28, 2022
Importance of adopting standardized MANE transcripts in clinical reportingCaroline F Wright, David R FitzPatrick, James S Ware, et al.
Genetics in Medicine Open|September 30, 2024
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD studyRuth Y Eberhardt, Caroline F Wright, David R FitzPatrick, et al.
Development (Cambridge, England)|June 12, 2023
Characterization of an eye field-like state during optic vesicle organoid developmentLiusaidh J Owen, Jacqueline Rainger, Hemant Bengani, et al.
American Journal of Medical Genetics. Part A|March 3, 2005
Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3Sixto Garcia-Miñaur, Jacqueline Ramsay, Elizabeth Grace, et al.
Pageof 16