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David R FitzPatrick

Showing results (101-110 of 144) with videos related to

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Plos One|August 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disabilityHemant Bengani, Detelina Grozeva, Lambert Moyon, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Nature Genetics|October 7, 2008
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lipFedik Rahimov, Mary L Marazita, Axel Visel, et al.
American Journal of Human Genetics|April 23, 2005
Heterozygous mutations of OTX2 cause severe ocular malformationsNicola K Ragge, Alison G Brown, Charlotte M Poloschek, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Human Genetics|March 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, et al.
Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.
Genome Medicine|July 19, 2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genomeJamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Pageof 15

Showing results (101-110 of 144) with videos related to

Sort By:
Pageof 15
Plos One|August 13, 2021
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disabilityHemant Bengani, Detelina Grozeva, Lambert Moyon, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Nature Genetics|October 7, 2008
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lipFedik Rahimov, Mary L Marazita, Axel Visel, et al.
American Journal of Human Genetics|April 23, 2005
Heterozygous mutations of OTX2 cause severe ocular malformationsNicola K Ragge, Alison G Brown, Charlotte M Poloschek, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Human Genetics|March 21, 2020
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, et al.
Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.
Genome Medicine|July 19, 2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genomeJamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Pageof 15