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Human Molecular Genetics
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February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
Chunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
Investigative Ophthalmology & Visual Science
|
June 4, 2016
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis
Ajoy Vincent, Judith Ng, Christina Gerth-Kahlert, et al.
Human Mutation
|
February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
Catherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Investigative Ophthalmology & Visual Science
|
August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations
Christina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.
NPJ Genomic Medicine
|
April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Ryan E Schmidt, Amy E Pohodich, David Birch, et al.
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of 9
Search research articles
Search
Showing results (81-90 of 85) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 85 results.
Human Molecular Genetics
|
February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma
Chunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
Investigative Ophthalmology & Visual Science
|
June 4, 2016
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis
Ajoy Vincent, Judith Ng, Christina Gerth-Kahlert, et al.
Human Mutation
|
February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
Catherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
Investigative Ophthalmology & Visual Science
|
August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations
Christina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.
NPJ Genomic Medicine
|
April 17, 2025
Variants in CFAP410 cause a range of retinal and skeletal phenotypes
Ryan E Schmidt, Amy E Pohodich, David Birch, et al.
Page
of 9