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David R FitzPatrick

Showing results (81-90 of 144) with videos related to

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Human Molecular Genetics|March 18, 2006
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson, Ann M Hever, Joe Rainger, et al.
Human Molecular Genetics|February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant colobomaChunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Plos Genetics|December 6, 2005
Medical sequencing of candidate genes for nonsyndromic cleft lip and palateAlexandre R Vieira, Joseph R Avila, Sandra Daack-Hirsch, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Pageof 15

Showing results (81-90 of 144) with videos related to

Sort By:
Pageof 15
Human Molecular Genetics|March 18, 2006
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson, Ann M Hever, Joe Rainger, et al.
Human Molecular Genetics|February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant colobomaChunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Plos Genetics|December 6, 2005
Medical sequencing of candidate genes for nonsyndromic cleft lip and palateAlexandre R Vieira, Joseph R Avila, Sandra Daack-Hirsch, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Pageof 15