-
1
المؤلفون: Rosalyn Jewell, Paul Brewer, Ian R. Berry, Christopher P. Bennett, Cesar Peres, James A. Fernandes, Sophie Stenton, Sue Chatfield, Bart E. Wagner
المصدر: Ultrastructural pathology. 42(2)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Infant, Newborn, Infant, Skin Diseases, Genetic, Dwarfism, Wrinkly skin, Cutis Laxa, Pathology and Forensic Medicine, 03 medical and health sciences, 030104 developmental biology, Structural Biology, Mutation, Medicine, Humans, Exome, Female, Bone Diseases, business, Exome sequencing
-
2
المؤلفون: Stephanie Matta, Jubran E. Rahme, Hanna Mandel, Emma Hobson, Zaid Afawi, Gail E. Graham, Amanda Krause, Anna Bode, Grace Vassallo, Sian-Elin Wood, Amira Masri, Samuel F. Berkovic, Sharon Aharoni, Orwain W. Howell, Cheney Drew, Vivek Jain, Alfred Peter Born, William O. Pickrell, Michael Freilinger, Jonathon G.L. Mullins, Elie G. Karam, Sue Chatfield, Jean-Francois Vanbellinghen, Gerald Bannasch, Marius Bartsch, Elizabeth Jones, Fusun Alehan, Thomas D. Cushion, Mark I. Rees, Joseph W. Lynch, Catherine Vincent-Delorme, Angelo Keramidas, Rhys H. Thomas, Seo-Kyung Chung, Bülent Kara
مصطلحات موضوعية: Male, Protein subunit, Mutation, Missense, Biology, Biochemistry, Protein Structure, Secondary, Receptors, Glycine, medicine, Humans, Hyperekplexia, Receptor, Molecular Biology, Glycine receptor, Ion channel, Genetics, Wild type, Molecular Bases of Disease, Cell Biology, Muscle Rigidity, Protein Structure, Tertiary, Amino Acid Substitution, Gene Expression Regulation, Female, medicine.symptom, Ion channel linked receptors, Cys-loop receptors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9d2d6fe988488fecbf57900d9ab98aa
https://europepmc.org/articles/PMC3837119/ -
3
المؤلفون: Malcolm I. Levene, Ranjit Lall, Gill Griffiths, Sue Chatfield, Paula R Williamson, Peter Mackay, Julia Brown, Andrew Short
المصدر: Archives of Disease in Childhood - Fetal and Neonatal Edition. 76:F190-F192
مصطلحات موضوعية: Lung Diseases, medicine.medical_specialty, Blood transfusion, Iron, medicine.medical_treatment, Infant, Premature, Diseases, Placebo, Double-Blind Method, Internal medicine, Intensive care, Humans, Infant, Very Low Birth Weight, Medicine, Blood Transfusion, Erythropoietin, Respiratory distress, business.industry, Respiratory disease, Infant, Newborn, Oxygen Inhalation Therapy, Obstetrics and Gynecology, Original Articles, General Medicine, medicine.disease, Respiration, Artificial, Recombinant Proteins, Confidence interval, Surgery, Chronic Disease, Pediatrics, Perinatology and Child Health, Chemoprophylaxis, business, Infant, Premature, medicine.drug