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Rasim O Rosti

Showing results (1-10 of 20) with videos related to

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Nature Reviews. Neurology|December 4, 2013
Primary cilia in neurodevelopmental disordersEnza Maria Valente, Rasim O Rosti, Elizabeth Gibbs, et al.
Developmental Medicine and Child Neurology|October 15, 2013
The genetic landscape of autism spectrum disordersRasim O Rosti, Abdelrahim A Sadek, Keith K Vaux, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotypeRasim O Rosti, Kadri Karaer, Birsen Karaman, et al.
Gene|February 18, 2014
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephalySamira Ismail, Ashleigh E Schaffer, Rasim O Rosti, 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.
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
British Journal of Haematology|September 1, 2020
Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemiaMoonjung Jung, Parinda A Mehta, Caroline S Jiang, et al.
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 Communications|February 16, 2021
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang, Zhen Li, David Sievert, et al.
Nature Communications|August 14, 2020
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang, Zhen Li, David Sievert, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Nature Reviews. Neurology|December 4, 2013
Primary cilia in neurodevelopmental disordersEnza Maria Valente, Rasim O Rosti, Elizabeth Gibbs, et al.
Developmental Medicine and Child Neurology|October 15, 2013
The genetic landscape of autism spectrum disordersRasim O Rosti, Abdelrahim A Sadek, Keith K Vaux, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotypeRasim O Rosti, Kadri Karaer, Birsen Karaman, et al.
Gene|February 18, 2014
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephalySamira Ismail, Ashleigh E Schaffer, Rasim O Rosti, 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.
American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.
British Journal of Haematology|September 1, 2020
Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemiaMoonjung Jung, Parinda A Mehta, Caroline S Jiang, et al.
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 Communications|February 16, 2021
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang, Zhen Li, David Sievert, et al.
Nature Communications|August 14, 2020
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephalyLu Wang, Zhen Li, David Sievert, et al.
Pageof 2