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Showing results (391-400 of 412) with videos related to

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Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.
American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.
Nature Genetics|October 27, 2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson, Harold Cross, Christos Proukakis, et al.
American Journal of Human Genetics|October 10, 2007
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone developmentM A Simpson, R Hsu, L S Keir, et al.
Human Genetics|October 18, 2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion, Marco Tartaglia, Xiaoling Song, et al.
Nature Genetics|May 26, 2015
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndromeVafa Alakbarzade, Abdul Hameed, Debra Q Y Quek, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|April 4, 2026
Mechanisms and barriers for understanding neural abundant protein efflux following traumatic brain injuryAndrew R Mayer, Tracey V Wick, Samuel Miller, et al.
Journal of Applied Clinical Medical Physics|June 4, 2014
Essentials and guidelines for clinical medical physics residency training programs: executive summary of AAPM Report Number 249Joann I Prisciandaro, Charles E Willis, Jay W Burmeister, et al.
Frontiers in Veterinary Science|July 29, 2021
Human-to-Cattle <i>Mycobacterium tuberculosis</i> Complex Transmission in the United StatesJason E Lombard, Elisabeth A Patton, Suzanne N Gibbons-Burgener, et al.
Pageof 42

Showing results (391-400 of 412) with videos related to

Sort By:
Pageof 42
Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.
American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.
Nature Genetics|October 27, 2004
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseMichael A Simpson, Harold Cross, Christos Proukakis, et al.
American Journal of Human Genetics|October 10, 2007
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone developmentM A Simpson, R Hsu, L S Keir, et al.
Human Genetics|October 18, 2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion, Marco Tartaglia, Xiaoling Song, et al.
Nature Genetics|May 26, 2015
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndromeVafa Alakbarzade, Abdul Hameed, Debra Q Y Quek, et al.
American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|April 4, 2026
Mechanisms and barriers for understanding neural abundant protein efflux following traumatic brain injuryAndrew R Mayer, Tracey V Wick, Samuel Miller, et al.
Journal of Applied Clinical Medical Physics|June 4, 2014
Essentials and guidelines for clinical medical physics residency training programs: executive summary of AAPM Report Number 249Joann I Prisciandaro, Charles E Willis, Jay W Burmeister, et al.
Frontiers in Veterinary Science|July 29, 2021
Human-to-Cattle <i>Mycobacterium tuberculosis</i> Complex Transmission in the United StatesJason E Lombard, Elisabeth A Patton, Suzanne N Gibbons-Burgener, et al.
Pageof 42