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David A Parry

Showing results (21-30 of 63) with videos related to

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Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
BMC Medical Genetics|May 1, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutationsAna Carolina Acevedo, James A Poulter, Priscila Gomes Alves, et al.
Genes & Development|October 16, 2020
PRIM1 deficiency causes a distinctive primordial dwarfism syndromeDavid A Parry, Lukas Tamayo-Orrego, Paula Carroll, et al.
Journal of Medical Genetics|October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndromeRonja Hollstein, David A Parry, Lisa Nalbach, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyteDavid A Parry, Clare V Logan, Bruce E Hayward, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.
Nature|February 10, 2022
Signatures of TOP1 transcription-associated mutagenesis in cancer and germlineMartin A M Reijns, David A Parry, Thomas C Williams, et al.
Investigative Ophthalmology & Visual Science|April 9, 2011
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityKamron Khan, Ahmed Al-Maskari, Martin McKibbin, et al.
Pageof 7

Showing results (21-30 of 63) with videos related to

Sort By:
Pageof 7
Human Mutation|May 3, 2019
Biallelic variants in DNA2 cause microcephalic primordial dwarfismŽygimantė Tarnauskaitė, Louise S Bicknell, Joseph A Marsh, et al.
BMC Medical Genetics|May 1, 2015
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutationsAna Carolina Acevedo, James A Poulter, Priscila Gomes Alves, et al.
Genes & Development|October 16, 2020
PRIM1 deficiency causes a distinctive primordial dwarfism syndromeDavid A Parry, Lukas Tamayo-Orrego, Paula Carroll, et al.
Journal of Medical Genetics|October 2, 2015
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndromeRonja Hollstein, David A Parry, Lisa Nalbach, et al.
American Journal of Human Genetics|March 22, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and HypotoniaPeriklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, et al.
American Journal of Human Genetics|September 3, 2011
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyteDavid A Parry, Clare V Logan, Bruce E Hayward, et al.
American Journal of Human Genetics|December 3, 2015
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 ChainClare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, et al.
Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.
Nature|February 10, 2022
Signatures of TOP1 transcription-associated mutagenesis in cancer and germlineMartin A M Reijns, David A Parry, Thomas C Williams, et al.
Investigative Ophthalmology & Visual Science|April 9, 2011
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityKamron Khan, Ahmed Al-Maskari, Martin McKibbin, et al.
Pageof 7