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Genetic Testing
|
January 11, 2000
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
C Klein, J Friedman, S Bressman, et al.
The Journal of Pediatrics
|
May 11, 2015
Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children
Paul S Thornton, Charles A Stanley, Diva D De Leon, et al.
Annals of Neurology
|
October 1, 1996
Exclusion of the DYT1 locus in familial torticollis
S B Bressman, T T Warner, L Almasy, et al.
Advances in Neurology
|
September 29, 1998
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family
L J Ozelius, J W Hewett, C E Page, et al.
Diabetes
|
July 7, 2022
Effects of GLP-1 and GIP on Islet Function in Glucose-Intolerant, Pancreatic-Insufficient Cystic Fibrosis
Sarah C Nyirjesy, Amy J Peleckis, Jack N Eiel, et al.
Med (New York, N.Y.)
|
March 19, 2025
Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism
Huseyin Demirbilek, Maria Melikyan, Violeta Iotova, et al.
The Journal of Pediatrics
|
March 31, 2015
Re-evaluating "transitional neonatal hypoglycemia": mechanism and implications for management
Charles A Stanley, Paul J Rozance, Paul S Thornton, et al.
Hormone Research in Paediatrics
|
July 16, 2023
International Guidelines for the Diagnosis and Management of Hyperinsulinism
Diva D De Leon, Jean Baptiste Arnoux, Indraneel Banerjee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 1, 2019
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management
Sarah E Sheppard, Emilie Lalonde, N Scott Adzick, et al.
Nature Genetics
|
September 1, 1997
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
L J Ozelius, J W Hewett, C E Page, et al.
Page
of 18
Search research articles
Search
Showing results (161-170 of 180) with videos related to
Sort By:
Page
of 18
Genetic Testing
|
January 11, 2000
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
C Klein, J Friedman, S Bressman, et al.
The Journal of Pediatrics
|
May 11, 2015
Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children
Paul S Thornton, Charles A Stanley, Diva D De Leon, et al.
Annals of Neurology
|
October 1, 1996
Exclusion of the DYT1 locus in familial torticollis
S B Bressman, T T Warner, L Almasy, et al.
Advances in Neurology
|
September 29, 1998
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family
L J Ozelius, J W Hewett, C E Page, et al.
Diabetes
|
July 7, 2022
Effects of GLP-1 and GIP on Islet Function in Glucose-Intolerant, Pancreatic-Insufficient Cystic Fibrosis
Sarah C Nyirjesy, Amy J Peleckis, Jack N Eiel, et al.
Med (New York, N.Y.)
|
March 19, 2025
Global, multi-center, repeat-dose, phase 2 study of RZ358 (ersodetug), an insulin receptor antibody, for congenital hyperinsulinism
Huseyin Demirbilek, Maria Melikyan, Violeta Iotova, et al.
The Journal of Pediatrics
|
March 31, 2015
Re-evaluating "transitional neonatal hypoglycemia": mechanism and implications for management
Charles A Stanley, Paul J Rozance, Paul S Thornton, et al.
Hormone Research in Paediatrics
|
July 16, 2023
International Guidelines for the Diagnosis and Management of Hyperinsulinism
Diva D De Leon, Jean Baptiste Arnoux, Indraneel Banerjee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 1, 2019
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management
Sarah E Sheppard, Emilie Lalonde, N Scott Adzick, et al.
Nature Genetics
|
September 1, 1997
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
L J Ozelius, J W Hewett, C E Page, et al.
Page
of 18