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M Chiara

Showing results (141-150 of 151) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Nature Cell Biology|May 6, 2008
Regulation of autophagy by cytoplasmic p53Ezgi Tasdemir, M Chiara Maiuri, Lorenzo Galluzzi, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Nature Medicine|August 21, 2007
Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapyLionel Apetoh, François Ghiringhelli, Antoine Tesniere, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
American Journal of Human Genetics|September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeM Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2019
De novo and biallelic DEAF1 variants cause a phenotypic spectrumMaria J Nabais Sá, Philip J Jensik, Stacey R McGee, et al.
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.
Pageof 16

Showing results (141-150 of 151) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapyFrancisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
Nature Cell Biology|May 6, 2008
Regulation of autophagy by cytoplasmic p53Ezgi Tasdemir, M Chiara Maiuri, Lorenzo Galluzzi, et al.
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Nature Medicine|August 21, 2007
Toll-like receptor 4-dependent contribution of the immune system to anticancer chemotherapy and radiotherapyLionel Apetoh, François Ghiringhelli, Antoine Tesniere, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
American Journal of Human Genetics|September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeM Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2019
De novo and biallelic DEAF1 variants cause a phenotypic spectrumMaria J Nabais Sá, Philip J Jensik, Stacey R McGee, et al.
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.
Pageof 16