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Ophthalmic Genetics
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July 26, 2023
Cryptophthalmos: associated syndromes and genetic disorders
Daphna Landau-Prat, Diana H Kim, Sana Bautista, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2024
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease
Jessica I Gold, Alanna Strong, Nina B Gold, et al.
American Journal of Medical Genetics. Part A
|
May 25, 2023
TOPORS as a novel causal gene for Joubert syndrome
Alanna Strong, Hui-Qi Qu, Sinéad Cullina, et al.
Molecular Cytogenetics
|
August 5, 2022
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Dong Li, Alanna Strong, Cuiping Hou, et al.
Circulation Research
|
January 17, 2015
Macrophage sortilin promotes LDL uptake, foam cell formation, and atherosclerosis
Kevin M Patel, Alanna Strong, Junichiro Tohyama, et al.
Prenatal Diagnosis
|
March 3, 2026
Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant
Haley M Crane, Rose Giardine, Alanna Strong, et al.
American Journal of Medical Genetics. Part A
|
June 16, 2021
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes
Alanna Strong, Laurie Simone, Anthony Krentz, et al.
Circulation Research
|
June 12, 2014
Permanent alteration of PCSK9 with in vivo CRISPR-Cas9 genome editing
Qiurong Ding, Alanna Strong, Kevin M Patel, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2022
Delayed diagnosis and racial bias in children with genetic conditions
Jacklyn Omorodion, Leah Dowsett, Robin D Clark, et al.
Circulation Research
|
January 6, 2018
Autophagy Is Required for Sortilin-Mediated Degradation of Apolipoprotein B100
Jaume Amengual, Liang Guo, Alanna Strong, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 69) with videos related to
Sort By:
Page
of 7
Ophthalmic Genetics
|
July 26, 2023
Cryptophthalmos: associated syndromes and genetic disorders
Daphna Landau-Prat, Diana H Kim, Sana Bautista, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2024
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease
Jessica I Gold, Alanna Strong, Nina B Gold, et al.
American Journal of Medical Genetics. Part A
|
May 25, 2023
TOPORS as a novel causal gene for Joubert syndrome
Alanna Strong, Hui-Qi Qu, Sinéad Cullina, et al.
Molecular Cytogenetics
|
August 5, 2022
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Dong Li, Alanna Strong, Cuiping Hou, et al.
Circulation Research
|
January 17, 2015
Macrophage sortilin promotes LDL uptake, foam cell formation, and atherosclerosis
Kevin M Patel, Alanna Strong, Junichiro Tohyama, et al.
Prenatal Diagnosis
|
March 3, 2026
Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant
Haley M Crane, Rose Giardine, Alanna Strong, et al.
American Journal of Medical Genetics. Part A
|
June 16, 2021
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes
Alanna Strong, Laurie Simone, Anthony Krentz, et al.
Circulation Research
|
June 12, 2014
Permanent alteration of PCSK9 with in vivo CRISPR-Cas9 genome editing
Qiurong Ding, Alanna Strong, Kevin M Patel, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2022
Delayed diagnosis and racial bias in children with genetic conditions
Jacklyn Omorodion, Leah Dowsett, Robin D Clark, et al.
Circulation Research
|
January 6, 2018
Autophagy Is Required for Sortilin-Mediated Degradation of Apolipoprotein B100
Jaume Amengual, Liang Guo, Alanna Strong, et al.
Page
of 7