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Jennifer L Silhavy

Showing results (1-10 of 34) with videos related to

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Neurology|August 17, 2012
Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetranceJennifer Friedman, Jesus Olvera, Jennifer L Silhavy, et al.
Orphanet Journal of Rare Diseases|May 17, 2012
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearanceBassam R Ali, Jennifer L Silhavy, Nadia A Akawi, et al.
Journal of Bacteriology|September 18, 2004
Complete genomic sequence of bacteriophage B3, a Mu-like phage of Pseudomonas aeruginosaMichael D Braid, Jennifer L Silhavy, Christopher L Kitts, et al.
BMC Medical Genetics|September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotionBassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Human Genetics|June 2, 2016
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndromeSusanne Roosing, Rasim O Rosti, Basak Rosti, et al.
Nature Medicine|September 1, 2009
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyMadeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, et al.
Nature Medicine|May 31, 2011
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndromeMadeline A Lancaster, Dipika J Gopal, Joon Kim, et al.
American Journal of Human Genetics|October 7, 2004
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaTracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, et al.
Nature Genetics|June 26, 2012
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalyJeong Ho Lee, My Huynh, Jennifer L Silhavy, et al.
American Journal of Human Genetics|March 12, 2013
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesFarid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Neurology|August 17, 2012
Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetranceJennifer Friedman, Jesus Olvera, Jennifer L Silhavy, et al.
Orphanet Journal of Rare Diseases|May 17, 2012
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearanceBassam R Ali, Jennifer L Silhavy, Nadia A Akawi, et al.
Journal of Bacteriology|September 18, 2004
Complete genomic sequence of bacteriophage B3, a Mu-like phage of Pseudomonas aeruginosaMichael D Braid, Jennifer L Silhavy, Christopher L Kitts, et al.
BMC Medical Genetics|September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotionBassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Human Genetics|June 2, 2016
Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndromeSusanne Roosing, Rasim O Rosti, Basak Rosti, et al.
Nature Medicine|September 1, 2009
Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathyMadeline A Lancaster, Carrie M Louie, Jennifer L Silhavy, et al.
Nature Medicine|May 31, 2011
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndromeMadeline A Lancaster, Dipika J Gopal, Joon Kim, et al.
American Journal of Human Genetics|October 7, 2004
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaTracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, et al.
Nature Genetics|June 26, 2012
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalyJeong Ho Lee, My Huynh, Jennifer L Silhavy, et al.
American Journal of Human Genetics|March 12, 2013
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesFarid Radmanesh, Ahmet Okay Caglayan, Jennifer L Silhavy, et al.
Pageof 4