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Jozef Gecz

Showing results (51-60 of 244) with videos related to

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Nucleic Acids Research|January 13, 2009
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structureMounia Bensaid, Mireille Melko, Elias G Bechara, et al.
American Journal of Medical Genetics. Part A|December 29, 2015
A mutation in COL4A2 causes autosomal dominant porencephaly with cataractsThuong T Ha, Lynette G Sadleir, Simone A Mandelstam, et al.
Epilepsia|April 6, 2023
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansionsMark A Corbett, Christel Depienne, Liana Veneziano, et al.
Human Molecular Genetics|February 11, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityEmily Brookes, Benoit Laurent, Katrin Õunap, et al.
European Journal of Medical Genetics|July 21, 2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansionRenee Carroll, Marie Shaw, Maria Arvio, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1Christopher P Barnett, Justin J Mencel, Jozef Gecz, et al.
European Journal of Medical Genetics|August 6, 2013
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsyGai McMichael, Eric Haan, Alison Gardner, et al.
European Journal of Medical Genetics|May 3, 2015
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndromeMarie Shaw, Tzu Ying Yap, Lyndal Henden, et al.
Human Mutation|August 28, 2015
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1Michael P Guy, Marie Shaw, Catherine L Weiner, et al.
Developmental Medicine and Child Neurology|January 17, 2018
Cerebral palsy and genomics: an international consortiumAlastair H MacLennan, Michael C Kruer, Gareth Baynam, et al.
Pageof 25

Showing results (51-60 of 244) with videos related to

Sort By:
Pageof 25
Nucleic Acids Research|January 13, 2009
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structureMounia Bensaid, Mireille Melko, Elias G Bechara, et al.
American Journal of Medical Genetics. Part A|December 29, 2015
A mutation in COL4A2 causes autosomal dominant porencephaly with cataractsThuong T Ha, Lynette G Sadleir, Simone A Mandelstam, et al.
Epilepsia|April 6, 2023
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansionsMark A Corbett, Christel Depienne, Liana Veneziano, et al.
Human Molecular Genetics|February 11, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityEmily Brookes, Benoit Laurent, Katrin Õunap, et al.
European Journal of Medical Genetics|July 21, 2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansionRenee Carroll, Marie Shaw, Maria Arvio, et al.
American Journal of Medical Genetics. Part A|November 22, 2012
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1Christopher P Barnett, Justin J Mencel, Jozef Gecz, et al.
European Journal of Medical Genetics|August 6, 2013
NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsyGai McMichael, Eric Haan, Alison Gardner, et al.
European Journal of Medical Genetics|May 3, 2015
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndromeMarie Shaw, Tzu Ying Yap, Lyndal Henden, et al.
Human Mutation|August 28, 2015
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1Michael P Guy, Marie Shaw, Catherine L Weiner, et al.
Developmental Medicine and Child Neurology|January 17, 2018
Cerebral palsy and genomics: an international consortiumAlastair H MacLennan, Michael C Kruer, Gareth Baynam, et al.
Pageof 25