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Neuroradiology
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April 23, 2022
Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper
Felice D'Arco, Livja Mertiri, Pim de Graaf, et al.
American Journal of Human Genetics
|
July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice
Bryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Biorxiv : the Preprint Server for Biology
|
September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays
Julie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Nature Genetics
|
March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndrome
Saumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.
Investigative Ophthalmology & Visual Science
|
March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays
Julie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
Human Genetics
|
October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Mary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Nature Communications
|
July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
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of 11
Search research articles
Search
Showing results (91-100 of 103) with videos related to
Sort By:
Page
of 11
Neuroradiology
|
April 23, 2022
Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper
Felice D'Arco, Livja Mertiri, Pim de Graaf, et al.
American Journal of Human Genetics
|
July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice
Bryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Biorxiv : the Preprint Server for Biology
|
September 24, 2024
Gene identification for ocular congenital cranial motor neuron disorders using human sequencing, zebrafish screening, and protein binding microarrays
Julie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Nature Genetics
|
March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndrome
Saumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.
Investigative Ophthalmology & Visual Science
|
March 31, 2025
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays
Julie A Jurgens, Paola M Matos Ruiz, Jessica King, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 11, 2024
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, et al.
Human Genetics
|
October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Mary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Nature Communications
|
July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Page
of 11