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Jennifer L Silhavy

Showing results (11-20 of 34) with videos related to

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Journal of Medical Genetics|June 20, 2017
A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic featuresIsaac Marin-Valencia, Gaia Novarino, Anide Johansen, et al.
Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.
American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.
Science (New York, N.Y.)|September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyGaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
Annals of Neurology|February 3, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente, Francesco Brancati, Jennifer L Silhavy, et al.
Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
American Journal of Human Genetics|August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
Cell|July 20, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel, Dirk J Lefeber, Bobby G Ng, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|June 20, 2017
A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic featuresIsaac Marin-Valencia, Gaia Novarino, Anide Johansen, et al.
Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.
American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.
Science (New York, N.Y.)|September 8, 2012
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyGaia Novarino, Paul El-Fishawy, Hulya Kayserili, et al.
American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.
Annals of Neurology|February 3, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disordersEnza Maria Valente, Francesco Brancati, Jennifer L Silhavy, et al.
Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
American Journal of Human Genetics|August 5, 2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeVincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, et al.
Cell|July 20, 2010
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderVincent Cantagrel, Dirk J Lefeber, Bobby G Ng, et al.
Pageof 4