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Jacek Majewski

Showing results (261-270 of 333) with videos related to

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American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Scientific Reports|January 19, 2020
Latency and interval therapy affect the evolution in metastatic colorectal cancerHamid Nikbakht, Selin Jessa, Mahadeo A Sukhai, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Acta Neuropathologica Communications|November 1, 2017
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomasRalph Salloum, Melissa K McConechy, Leonie G Mikael, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Plos Genetics|August 31, 2019
A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility geneCavin Wong, Fei Chen, Najmeh Alirezaie, et al.
Nature Genetics|August 28, 2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismDavid Coelho, Jaeseung C Kim, Isabelle R Miousse, et al.
EMBO Reports|June 15, 2014
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsyKristopher T Kahle, Nancy D Merner, Perrine Friedel, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
Pageof 34

Showing results (261-270 of 333) with videos related to

Sort By:
Pageof 34
American Journal of Human Genetics|August 9, 2014
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophyKimberly A Aldinger, Stephen J Mosca, Martine Tétreault, et al.
Scientific Reports|January 19, 2020
Latency and interval therapy affect the evolution in metastatic colorectal cancerHamid Nikbakht, Selin Jessa, Mahadeo A Sukhai, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
Acta Neuropathologica Communications|November 1, 2017
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomasRalph Salloum, Melissa K McConechy, Leonie G Mikael, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Plos Genetics|August 31, 2019
A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility geneCavin Wong, Fei Chen, Najmeh Alirezaie, et al.
Nature Genetics|August 28, 2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismDavid Coelho, Jaeseung C Kim, Isabelle R Miousse, et al.
EMBO Reports|June 15, 2014
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsyKristopher T Kahle, Nancy D Merner, Perrine Friedel, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
Pageof 34