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Clinical and Experimental Reproductive Medicine
|
January 27, 2021
Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women
Amer Mahmoud Sindiani, Osamah Batiha, Esra'a Al-Zoubi, et al.
Pharmacogenomics
|
October 29, 2020
Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety
Jordan F Baye, Natasha J Petry, Shauna L Jacobson, et al.
American Journal of Human Genetics
|
June 12, 2018
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
Silvio Alessandro Di Gioia, Sherin Shaaban, Beyhan Tüysüz, et al.
American Journal of Human Genetics
|
July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice
Bryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
Sherin Shaaban, Sarah MacKinnon, Caroline Andrews, et al.
Frontiers in Genetics
|
March 29, 2021
Precision Population Medicine in Primary Care: The Sanford Chip Experience
Kurt D Christensen, Megan Bell, Carrie L B Zawatsky, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2020
Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Mary C Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
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Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Clinical and Experimental Reproductive Medicine
|
January 27, 2021
Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women
Amer Mahmoud Sindiani, Osamah Batiha, Esra'a Al-Zoubi, et al.
Pharmacogenomics
|
October 29, 2020
Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety
Jordan F Baye, Natasha J Petry, Shauna L Jacobson, et al.
American Journal of Human Genetics
|
June 12, 2018
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies
Silvio Alessandro Di Gioia, Sherin Shaaban, Beyhan Tüysüz, et al.
American Journal of Human Genetics
|
July 10, 2012
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice
Bryn D Webb, Sherin Shaaban, Harald Gaspar, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2018
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect
Sherin Shaaban, Sarah MacKinnon, Caroline Andrews, et al.
Frontiers in Genetics
|
March 29, 2021
Precision Population Medicine in Primary Care: The Sanford Chip Experience
Kurt D Christensen, Megan Bell, Carrie L B Zawatsky, et al.
Investigative Ophthalmology & Visual Science
|
August 12, 2020
Recurrent Rare Copy Number Variants Increase Risk for Esotropia
Mary C Whitman, Silvio Alessandro Di Gioia, Wai-Man Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
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of 3