Search research articles
Contact Us
Filters
Showing results (1-10 of 70) with videos related to
Page
of 7
Sort By:
CNS & Neurological Disorders Drug Targets
|
May 16, 2012
Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease
Guney Bademci, Jeffery M Vance, Liyong Wang
American Journal of Medical Genetics. Part A
|
October 13, 2025
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
Ryan Chen, Dayna Morel Swols, Guney Bademci, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2021
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature
Michelle Bartlett, Nima Nasiri, Rena Pressman, et al.
International Journal of Pediatric Otorhinolaryngology
|
September 15, 2014
Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria
Akeem O Lasisi, Guney Bademci, Joseph Foster, et al.
The Journal of Pediatrics
|
May 26, 2015
MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation
Nisha Garg, Guney Bademci, Joseph Foster, et al.
Genetics Research
|
April 1, 2015
Whole-exome sequencing and its impact in hereditary hearing loss
Tahir Atik, Guney Bademci, Oscar Diaz-Horta, et al.
Ophthalmic Genetics
|
November 14, 2025
Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations
Sujin Kang, Alejandro M Perez, Carson Smith, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
November 7, 2022
Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population
Maria Fernanda Villalba, Alana L Grajewski, Mustafa Tekin, et al.
Molecular Genetics & Genomic Medicine
|
February 19, 2020
Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
Arti Pandya, Alexander O'Brien, Michael Kovasala, et al.
American Journal of Ophthalmology
|
March 11, 2023
Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Maria Fernanda Villalba, Chris Michael Li, Parastou Pakravan, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 70) with videos related to
Sort By:
Page
of 7
CNS & Neurological Disorders Drug Targets
|
May 16, 2012
Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease
Guney Bademci, Jeffery M Vance, Liyong Wang
American Journal of Medical Genetics. Part A
|
October 13, 2025
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
Ryan Chen, Dayna Morel Swols, Guney Bademci, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2021
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature
Michelle Bartlett, Nima Nasiri, Rena Pressman, et al.
International Journal of Pediatric Otorhinolaryngology
|
September 15, 2014
Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria
Akeem O Lasisi, Guney Bademci, Joseph Foster, et al.
The Journal of Pediatrics
|
May 26, 2015
MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation
Nisha Garg, Guney Bademci, Joseph Foster, et al.
Genetics Research
|
April 1, 2015
Whole-exome sequencing and its impact in hereditary hearing loss
Tahir Atik, Guney Bademci, Oscar Diaz-Horta, et al.
Ophthalmic Genetics
|
November 14, 2025
Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations
Sujin Kang, Alejandro M Perez, Carson Smith, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
November 7, 2022
Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population
Maria Fernanda Villalba, Alana L Grajewski, Mustafa Tekin, et al.
Molecular Genetics & Genomic Medicine
|
February 19, 2020
Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
Arti Pandya, Alexander O'Brien, Michael Kovasala, et al.
American Journal of Ophthalmology
|
March 11, 2023
Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Maria Fernanda Villalba, Chris Michael Li, Parastou Pakravan, et al.
Page
of 7