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American Journal of Human Genetics
|
August 15, 2003
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
Lesley C Keeler, Sarah E Marsh, Esther P Leeflang, et al.
Nature
|
April 16, 2010
Functional genomic screen for modulators of ciliogenesis and cilium length
Joon Kim, Ji Eun Lee, Susanne Heynen-Genel, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2011
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
Maha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, et al.
Cell
|
May 8, 2007
Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist
Stephanie L Bielas, Finley F Serneo, Magdalena Chechlacz, et al.
Journal of Medical Genetics
|
May 12, 2012
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Fernando Jose Martinez, Jeong Ho Lee, Ji Eun Lee, et al.
Human Genetics
|
April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
Ghayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.
American Journal of Medical Genetics. Part A
|
September 20, 2012
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
Ghada M H Abdel-Salam, Ashleigh E Schaffer, Maha S Zaki, et al.
Cell Stem Cell
|
August 23, 2016
Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation
Hongda Li, Laura Saucedo-Cuevas, Jose A Regla-Nava, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2015
Novel STAMBP mutation and additional findings in an Arabic family
Eissa A Faqeih, Laila Bastaki, Rasim Ozgur Rosti, et al.
Nature Medicine
|
May 11, 2023
Personalized antisense oligonucleotides 'for free, for life' - the n-Lorem Foundation
Joseph G Gleeson, C Frank Bennett, Jeffrey B Carroll, et al.
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of 33
Search research articles
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Showing results (101-110 of 325) with videos related to
Sort By:
Page
of 33
American Journal of Human Genetics
|
August 15, 2003
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
Lesley C Keeler, Sarah E Marsh, Esther P Leeflang, et al.
Nature
|
April 16, 2010
Functional genomic screen for modulators of ciliogenesis and cilium length
Joon Kim, Ji Eun Lee, Susanne Heynen-Genel, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2011
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
Maha S Zaki, Ghada M H Abdel Salam, Sahar N Saleem, et al.
Cell
|
May 8, 2007
Spinophilin facilitates dephosphorylation of doublecortin by PP1 to mediate microtubule bundling at the axonal wrist
Stephanie L Bielas, Finley F Serneo, Magdalena Chechlacz, et al.
Journal of Medical Genetics
|
May 12, 2012
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Fernando Jose Martinez, Jeong Ho Lee, Ji Eun Lee, et al.
Human Genetics
|
April 22, 2014
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
Ghayda M Mirzaa, Benjamin Vitre, Gillian Carpenter, et al.
American Journal of Medical Genetics. Part A
|
September 20, 2012
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
Ghada M H Abdel-Salam, Ashleigh E Schaffer, Maha S Zaki, et al.
Cell Stem Cell
|
August 23, 2016
Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation
Hongda Li, Laura Saucedo-Cuevas, Jose A Regla-Nava, et al.
American Journal of Medical Genetics. Part A
|
February 19, 2015
Novel STAMBP mutation and additional findings in an Arabic family
Eissa A Faqeih, Laila Bastaki, Rasim Ozgur Rosti, et al.
Nature Medicine
|
May 11, 2023
Personalized antisense oligonucleotides 'for free, for life' - the n-Lorem Foundation
Joseph G Gleeson, C Frank Bennett, Jeffrey B Carroll, et al.
Page
of 33