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B Hufnagel

Showing results (51-60 of 156) with videos related to

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The Journal of Pediatrics|August 3, 2015
The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1Carlos E Prada, Robert B Hufnagel, Trent R Hummel, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohortLev Prasov, Ehsan Ullah, Amy E Turriff, et al.
Frontiers in Genetics|December 12, 2022
Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathwaysAmeera Mungale, David M McGaughey, Congxiao Zhang, et al.
JAMA Ophthalmology|June 9, 2022
Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal PeptideBin Guan, Laryssa A Huryn, Andrew B Hughes, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 7, 2020
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE networkKerry E Goetz, Melissa J Reeves, Shaina Gagadam, et al.
Disease Models & Mechanisms|March 19, 2016
A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closureKeith S K Fong, Robert B Hufnagel, Vedbar S Khadka, et al.
Clinical Genetics|November 18, 2015
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindredA M Waryah, M Shahzad, H Shaikh, et al.
American Journal of Medical Genetics. Part A|September 29, 2023
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathiesCarolyn R Serbinski, April Vanderwal, Sarah E Chadwell, et al.
Stem Cell Research|July 30, 2025
Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variantZhiyu Li, Sairah Yousaf, Bin Guan, et al.
Genesis (New York, N.Y. : 2000)|October 31, 2018
Using human sequencing to guide craniofacial researchRyan P Liegel, Erin Finnerty, Lauren Blizzard, et al.
Pageof 16

Showing results (51-60 of 156) with videos related to

Sort By:
Pageof 16
The Journal of Pediatrics|August 3, 2015
The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1Carlos E Prada, Robert B Hufnagel, Trent R Hummel, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohortLev Prasov, Ehsan Ullah, Amy E Turriff, et al.
Frontiers in Genetics|December 12, 2022
Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathwaysAmeera Mungale, David M McGaughey, Congxiao Zhang, et al.
JAMA Ophthalmology|June 9, 2022
Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal PeptideBin Guan, Laryssa A Huryn, Andrew B Hughes, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 7, 2020
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE networkKerry E Goetz, Melissa J Reeves, Shaina Gagadam, et al.
Disease Models & Mechanisms|March 19, 2016
A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closureKeith S K Fong, Robert B Hufnagel, Vedbar S Khadka, et al.
Clinical Genetics|November 18, 2015
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindredA M Waryah, M Shahzad, H Shaikh, et al.
American Journal of Medical Genetics. Part A|September 29, 2023
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathiesCarolyn R Serbinski, April Vanderwal, Sarah E Chadwell, et al.
Stem Cell Research|July 30, 2025
Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variantZhiyu Li, Sairah Yousaf, Bin Guan, et al.
Genesis (New York, N.Y. : 2000)|October 31, 2018
Using human sequencing to guide craniofacial researchRyan P Liegel, Erin Finnerty, Lauren Blizzard, et al.
Pageof 16