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David Murphy

Showing results (311-320 of 321) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
EFSA Journal. European Food Safety Authority|July 7, 2020
EMA and EFSA Joint Scientific Opinion on measures to reduce the need to use antimicrobial agents in animal husbandry in the European Union, and the resulting impacts on food safety (RONAFA), David Murphy, Antonia Ricci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Brain : a Journal of Neurology|November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersRauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Brain : a Journal of Neurology|July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Pageof 33

Showing results (311-320 of 321) with videos related to

Sort By:
Pageof 33
Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter <i>FLVCR1</i> underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.
EFSA Journal. European Food Safety Authority|July 7, 2020
EMA and EFSA Joint Scientific Opinion on measures to reduce the need to use antimicrobial agents in animal husbandry in the European Union, and the resulting impacts on food safety (RONAFA), David Murphy, Antonia Ricci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2026
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological InvolvementValentina Galassi Deforie, Reza Maroofian, Irem Karagoz, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications|August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2022
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individualsKen Saida, Reza Maroofian, Toru Sengoku, et al.
Brain : a Journal of Neurology|November 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersRauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathyEmily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Brain : a Journal of Neurology|July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Pageof 33