Results 241 to 250 of about 444,809 (263)

Analytical Study Showing a False-Negative Limitation of Deletion-Based Newborn Screening for Spinal Muscular Atrophy Using a Compound Heterozygous <i>SMN1</i> Control. [PDF]

Int J Neonatal Screen
Abe Y, Suzuki-Muromoto S, Kosuga M, Isayama T, Tajima G, Aoki Y, Ishige N, Ito Y.   +7 more
europepmc   +1 more source

A novel homozygous frameshift mutation in exon 13 of SLC34A2 gene causing pulmonary alveolar microlithiasis: A case report. [PDF]

Respir Med Case Rep
Ge M, Pei S, Ye Y, Shao Q, Cheng Y, Ding R.   +5 more
europepmc   +1 more source

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2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.

European Heart Journal, 2023
Albert Wiegman, Tomáš Freiberger, Marina Cuchel   +2 more
exaly  

Cyclin-Dependent Kinase Inhibitor 2A/B Homozygous Deletion Prediction and Survival Analysis

Brain Sciences, 2023
Xiaofei Hu, Jing Yang, Wei Chen
exaly  

Very High Cholesterol Mimicking Homozygous Familial Hypercholesterolemia

Circulation, 2022
Dinesh K Kalra, Mounica Vorla
exaly  

Homozygous achondroplasia with survival beyond infancy

American Journal of Medical Genetics, Part A, 1983
Leonard O Langer, D G McLone
exaly  

Microsomal transfer protein (MTP) inhibition—a novel approach to the treatment of homozygous hypercholesterolemia

Annals of Medicine, 2014
Chiara Pavanello, Stefano Bertolini
exaly  

Apheresis in homozygous familial hypercholesterolemia: The results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia

Journal of Clinical Lipidology, 2012
Kjetil Retterstøl, Martin Prøven Bogsrud, Ingunn Narverud   +2 more
exaly  

Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome

Annals of Hematology, 2015
Kanokwan Sanchaisuriya, Supan Fucharoen, Supawadee Yamsri   +2 more
exaly