Search research articles
Contact Us
Filters
Showing results (1-10 of 9) with videos related to
Page
of 1
Sort By:
Orphanet Journal of Rare Diseases
|
December 21, 2017
KBG syndrome
Dayna Morel Swols, Joseph Foster, Mustafa Tekin
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
|
March 28, 2024
Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome
Yun-Ting Wang, Shiva Jahani, Dayna Morel-Swols, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2023
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
Nicholas Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, et al.
Genes
|
April 1, 2020
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Saradadevi Thanikachalam, Elizabeth Hodapp, Ta C Chang, et al.
Scientific Reports
|
January 2, 2025
Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies
Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, et al.
Human Genomics
|
November 23, 2023
Dispersed DNA variants underlie hearing loss in South Florida's minority population
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Orphanet Journal of Rare Diseases
|
December 21, 2017
KBG syndrome
Dayna Morel Swols, Joseph Foster, Mustafa Tekin
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
|
March 28, 2024
Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome
Yun-Ting Wang, Shiva Jahani, Dayna Morel-Swols, et al.
American Journal of Medical Genetics. Part A
|
January 11, 2023
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
Nicholas Borja, Mohammad Faraz Zafeer, Jeimy Alfonso Rodriguez, et al.
Genes
|
April 1, 2020
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Saradadevi Thanikachalam, Elizabeth Hodapp, Ta C Chang, et al.
Scientific Reports
|
January 2, 2025
Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies
Ashraf Hussain, Maria Fernanda Villalba, Dayna Morel Swols, et al.
Human Genomics
|
November 23, 2023
Dispersed DNA variants underlie hearing loss in South Florida's minority population
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, et al.
American Journal of Human Genetics
|
September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variants
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.
Page
of 1