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February 18, 2014
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly
Samira Ismail, Ashleigh E Schaffer, Rasim O Rosti, et al.
Journal of Child Neurology
|
May 4, 2004
Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts
Sarah E Marsh, Padraic Grattan-Smith, John Pereira, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Direct identification of <i>de novo</i> mobile element insertions from single molecule sequencing of human sperm
Stacy Li, Kenneth Aston, Joseph G Gleeson, et al.
Trends in Genetics : TIG
|
March 18, 2026
De novo mutations and environmental modifiers: lessons from neural tube defects
Hong-Yu Li, Yuying Shen, Keng Ioi Vong, et al.
Differentiation; Research in Biological Diversity
|
March 12, 2014
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
Sveva Romani, Barbara Illi, Roberta De Mori, et al.
BMC Medical Genetics
|
September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Neuron
|
October 12, 2004
Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning
Tianzhi Shu, Ramses Ayala, Minh-Dang Nguyen, 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 appearance
Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, et al.
Human Genome Variation
|
April 16, 2016
Mutation spectrum of Joubert syndrome and related disorders among Arabs
Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, et al.
Human Genome Variation
|
April 16, 2016
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs
Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, et al.
Page
of 33
Search research articles
Search
Showing results (71-80 of 324) with videos related to
Sort By:
Page
of 33
Gene
|
February 18, 2014
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly
Samira Ismail, Ashleigh E Schaffer, Rasim O Rosti, et al.
Journal of Child Neurology
|
May 4, 2004
Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts
Sarah E Marsh, Padraic Grattan-Smith, John Pereira, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
Direct identification of <i>de novo</i> mobile element insertions from single molecule sequencing of human sperm
Stacy Li, Kenneth Aston, Joseph G Gleeson, et al.
Trends in Genetics : TIG
|
March 18, 2026
De novo mutations and environmental modifiers: lessons from neural tube defects
Hong-Yu Li, Yuying Shen, Keng Ioi Vong, et al.
Differentiation; Research in Biological Diversity
|
March 12, 2014
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
Sveva Romani, Barbara Illi, Roberta De Mori, et al.
BMC Medical Genetics
|
September 15, 2012
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion
Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, et al.
Neuron
|
October 12, 2004
Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning
Tianzhi Shu, Ramses Ayala, Minh-Dang Nguyen, 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 appearance
Bassam R Ali, Jennifer L Silhavy, Nadia A Akawi, et al.
Human Genome Variation
|
April 16, 2016
Mutation spectrum of Joubert syndrome and related disorders among Arabs
Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, et al.
Human Genome Variation
|
April 16, 2016
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs
Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, et al.
Page
of 33