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David R Fitzpatrick

Showing results (111-120 of 153) with videos related to

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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Nature|December 6, 2023
A human embryonic limb cell atlas resolved in space and timeBao Zhang, Peng He, John E G Lawrence, et al.
Pageof 16

Showing results (111-120 of 153) with videos related to

Sort By:
Pageof 16
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Nature|December 6, 2023
A human embryonic limb cell atlas resolved in space and timeBao Zhang, Peng He, John E G Lawrence, et al.
Pageof 16