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Elizabeth C Engle

Showing results (81-90 of 125) with videos related to

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Human Molecular Genetics|June 19, 2019
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humansMary C Whitman, Noriko Miyake, Elaine H Nguyen, et al.
American Journal of Human Genetics|May 17, 2016
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear DefectsJong G Park, Max A Tischfield, Alicia A Nugent, et al.
International Journal of Environmental Research and Public Health|May 25, 2024
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial WeaknessDenise K Liberton, Konstantinia Almpani, Rashmi Mishra, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 4, 2025
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness DisordersKonstantinia Almpani, Katelin R Devine, Denise K Liberton, et al.
Molecular Vision|November 3, 2010
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)Xian Yang, Koki Yamada, Bradley Katz, et al.
BMC Genetics|March 8, 2002
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIXElizabeth C Engle, Nathalie McIntosh, Koki Yamada, et al.
Neuron|March 25, 2014
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stallingLong Cheng, Jigar Desai, Carlos J Miranda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD geneVirginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, et al.
American Journal of Human Genetics|July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceBryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
Pageof 13

Showing results (81-90 of 125) with videos related to

Sort By:
Pageof 13
Human Molecular Genetics|June 19, 2019
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humansMary C Whitman, Noriko Miyake, Elaine H Nguyen, et al.
American Journal of Human Genetics|May 17, 2016
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear DefectsJong G Park, Max A Tischfield, Alicia A Nugent, et al.
International Journal of Environmental Research and Public Health|May 25, 2024
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial WeaknessDenise K Liberton, Konstantinia Almpani, Rashmi Mishra, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 4, 2025
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness DisordersKonstantinia Almpani, Katelin R Devine, Denise K Liberton, et al.
Molecular Vision|November 3, 2010
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)Xian Yang, Koki Yamada, Bradley Katz, et al.
BMC Genetics|March 8, 2002
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIXElizabeth C Engle, Nathalie McIntosh, Koki Yamada, et al.
Neuron|March 25, 2014
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stallingLong Cheng, Jigar Desai, Carlos J Miranda, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD geneVirginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, et al.
American Journal of Human Genetics|July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- miceBryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
Pageof 13