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American Journal of Medical Genetics. Part A
|
January 31, 2025
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises
Deborah Watson, Frank Mentch, Jonathan Billings, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2022
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome
Guozhuang Li, Alanna Strong, Haojun Wang, et al.
European Journal of Human Genetics : EJHG
|
June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
Dong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Ciliopathies: Coloring outside of the lines
Alanna Strong, Dong Li, Frank Mentch, et al.
HGG Advances
|
August 18, 2023
Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants
Jessica I Gold, Sarina Madhavan, Joseph Park, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2024
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I
Lauren O Grady, Emilie S Zoltick, Hana Zouk, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2021
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
Alanna Strong, Cara Skraban, Kevin Meyers, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2021
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213
Alanna Strong, Gina O'Grady, Evelyn Shih, et al.
Scientific Reports
|
January 18, 2023
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort
Alanna Strong, Meckenzie Behr, Carina Lott, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2021
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response
Alanna Strong, Michael E March, Christopher J Cardinale, et al.
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of 7
Search research articles
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Showing results (41-50 of 69) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
January 31, 2025
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises
Deborah Watson, Frank Mentch, Jonathan Billings, et al.
American Journal of Medical Genetics. Part A
|
September 26, 2022
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome
Guozhuang Li, Alanna Strong, Haojun Wang, et al.
European Journal of Human Genetics : EJHG
|
June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome
Dong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Ciliopathies: Coloring outside of the lines
Alanna Strong, Dong Li, Frank Mentch, et al.
HGG Advances
|
August 18, 2023
Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants
Jessica I Gold, Sarina Madhavan, Joseph Park, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2024
Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I
Lauren O Grady, Emilie S Zoltick, Hana Zouk, et al.
American Journal of Medical Genetics. Part A
|
August 6, 2021
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes
Alanna Strong, Cara Skraban, Kevin Meyers, et al.
American Journal of Medical Genetics. Part A
|
May 7, 2021
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213
Alanna Strong, Gina O'Grady, Evelyn Shih, et al.
Scientific Reports
|
January 18, 2023
Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort
Alanna Strong, Meckenzie Behr, Carina Lott, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2021
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response
Alanna Strong, Michael E March, Christopher J Cardinale, et al.
Page
of 7