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American Journal of Respiratory Cell and Molecular Biology
|
January 1, 2010
Activation of the cystic fibrosis transmembrane conductance regulator by the flavonoid quercetin: potential use as a biomarker of ΔF508 cystic fibrosis transmembrane conductance regulator rescue
Louise C Pyle, Jennifer C Fulton, Peter A Sloane, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants
Alexander F Gileta, Maria L Helgeson, Jacqueline M M Leonard, et al.
Frontiers in Endocrinology
|
February 3, 2023
Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States
Aisha L Siebert, Veronica Gomez-Lobo, Emilie K Johnson, et al.
American Journal of Medical Genetics. Part A
|
February 16, 2018
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies
Hailey Pinz, Louise C Pyle, Dong Li, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
July 5, 2011
Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators
Louise C Pyle, Annette Ehrhardt, Lisa High Mitchell, et al.
Urology
|
April 17, 2017
Ovotestis in Adolescence: 2 Case Reports
Jyoti D Chouhan, David I Chu, Antoinette Birs, et al.
Journal of Pediatric Urology
|
May 8, 2025
Genetic analysis of two bladder exstrophy populations of South Asian and North American origin
John K Weaver, Dana A Weiss, Austin Thompson, et al.
American Journal of Medical Genetics. Part A
|
February 16, 2023
Expanding the reproductive organ phenotype of CHD7-spectrum disorder
Tomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart, et al.
The Journal of Biological Chemistry
|
December 3, 2015
Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop
Annette Ehrhardt, W Joon Chung, Louise C Pyle, et al.
The Journal of Pediatrics
|
August 30, 2021
Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study
Rachel Sewell, Cindy L Buchanan, Shanlee Davis, et al.
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of 4
Search research articles
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Showing results (11-20 of 34) with videos related to
Sort By:
Page
of 4
American Journal of Respiratory Cell and Molecular Biology
|
January 1, 2010
Activation of the cystic fibrosis transmembrane conductance regulator by the flavonoid quercetin: potential use as a biomarker of ΔF508 cystic fibrosis transmembrane conductance regulator rescue
Louise C Pyle, Jennifer C Fulton, Peter A Sloane, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2020
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants
Alexander F Gileta, Maria L Helgeson, Jacqueline M M Leonard, et al.
Frontiers in Endocrinology
|
February 3, 2023
Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States
Aisha L Siebert, Veronica Gomez-Lobo, Emilie K Johnson, et al.
American Journal of Medical Genetics. Part A
|
February 16, 2018
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies
Hailey Pinz, Louise C Pyle, Dong Li, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology
|
July 5, 2011
Regulatory domain phosphorylation to distinguish the mechanistic basis underlying acute CFTR modulators
Louise C Pyle, Annette Ehrhardt, Lisa High Mitchell, et al.
Urology
|
April 17, 2017
Ovotestis in Adolescence: 2 Case Reports
Jyoti D Chouhan, David I Chu, Antoinette Birs, et al.
Journal of Pediatric Urology
|
May 8, 2025
Genetic analysis of two bladder exstrophy populations of South Asian and North American origin
John K Weaver, Dana A Weiss, Austin Thompson, et al.
American Journal of Medical Genetics. Part A
|
February 16, 2023
Expanding the reproductive organ phenotype of CHD7-spectrum disorder
Tomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart, et al.
The Journal of Biological Chemistry
|
December 3, 2015
Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop
Annette Ehrhardt, W Joon Chung, Louise C Pyle, et al.
The Journal of Pediatrics
|
August 30, 2021
Behavioral Health Diagnoses in Youth with Differences of Sex Development or Congenital Adrenal Hyperplasia Compared with Controls: A PEDSnet Study
Rachel Sewell, Cindy L Buchanan, Shanlee Davis, et al.
Page
of 4