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American Journal of Medical Genetics. Part A
|
June 12, 2021
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
Anne Benner, Yazeid Alhaidan, Matthew A Lines, et al.
Molecular Genetics & Genomic Medicine
|
October 15, 2020
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
Katrine S Aagaard, Klaus Brusgaard, Ieva Miceikaite, et al.
Frontiers in Endocrinology
|
September 7, 2018
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism
Julie Bendix, Mette G Laursen, Michael B Mortensen, et al.
Hormone Research
|
November 23, 2006
Rapid genetic analysis in congenital hyperinsulinism
Henrik B T Christesen, Klaus Brusgaard, Jan Alm, et al.
Annals of Human Genetics
|
March 21, 2022
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients
Ming Tan, Klaus Brusgaard, Anne-Marie Gerdes, et al.
Pediatric Diabetes
|
January 31, 2020
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center
Amalie G Rasmussen, Maria Melikian, Evgenia Globa, et al.
Journal of Medical Case Reports
|
November 28, 2021
Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report
Sandra Simony Tornoe Riis, Marianne Hoerby Joergensen, Kristina Fruerlund Rasmussen, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
June 30, 2016
Aquaporin-4 IgG autoimmune syndrome and immunoreactivity associated with thyroid cancer
Kerstin Soelberg, Stine R Larsen, Marlene T Moerch, et al.
Calcified Tissue International
|
October 8, 2025
Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant
Trine Maxel Juul, Lisbeth Koch Thomsen, Christina Møller Andreasen, et al.
Ugeskrift for Laeger
|
November 29, 2011
[Congenital hyperinsulinism--diagnosis and treatment]
Henrik Thybo Christesen, Maria Fuglsang Bruun, Stine Hedegaard Christoffersen, et al.
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Search research articles
Search
Showing results (61-70 of 94) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics. Part A
|
June 12, 2021
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
Anne Benner, Yazeid Alhaidan, Matthew A Lines, et al.
Molecular Genetics & Genomic Medicine
|
October 15, 2020
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
Katrine S Aagaard, Klaus Brusgaard, Ieva Miceikaite, et al.
Frontiers in Endocrinology
|
September 7, 2018
Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism
Julie Bendix, Mette G Laursen, Michael B Mortensen, et al.
Hormone Research
|
November 23, 2006
Rapid genetic analysis in congenital hyperinsulinism
Henrik B T Christesen, Klaus Brusgaard, Jan Alm, et al.
Annals of Human Genetics
|
March 21, 2022
Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients
Ming Tan, Klaus Brusgaard, Anne-Marie Gerdes, et al.
Pediatric Diabetes
|
January 31, 2020
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center
Amalie G Rasmussen, Maria Melikian, Evgenia Globa, et al.
Journal of Medical Case Reports
|
November 28, 2021
Transient congenital hyperinsulinism and hemolytic disease of a newborn despite rhesus D prophylaxis: a case report
Sandra Simony Tornoe Riis, Marianne Hoerby Joergensen, Kristina Fruerlund Rasmussen, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
June 30, 2016
Aquaporin-4 IgG autoimmune syndrome and immunoreactivity associated with thyroid cancer
Kerstin Soelberg, Stine R Larsen, Marlene T Moerch, et al.
Calcified Tissue International
|
October 8, 2025
Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant
Trine Maxel Juul, Lisbeth Koch Thomsen, Christina Møller Andreasen, et al.
Ugeskrift for Laeger
|
November 29, 2011
[Congenital hyperinsulinism--diagnosis and treatment]
Henrik Thybo Christesen, Maria Fuglsang Bruun, Stine Hedegaard Christoffersen, et al.
Page
of 10