-
1دورية أكاديمية
المؤلفون: Weston, P.Aff1, IDs1063302209892w_cor1, Taranath, D., Liebelt, J., Smith, N.
المصدر: Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. 145(2):163-174
-
2دورية أكاديمية
المؤلفون: Tal T. Sadeh, Graeme C. Black, Forbes Manson
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: L-type calcium channels, mutation analysis, incomplete congenital stationary night blindness, treatment, CaV1.4 calcium channel, Genetics, QH426-470
وصف الملف: electronic resource
-
3
المؤلفون: Satoshi Katagiri, Tadashi Nakano, Sachiyo Okude, Takaaki Hayashi, Akiko Kubo, Wakana Ninomiya, Nami Masuhara, Kei Mizobuchi
المصدر: Documenta Ophthalmologica. 140:279-287
مصطلحات موضوعية: medicine.medical_specialty, Calcium Channels, L-Type, genetic structures, Photophobia, Pregabalin, Visual Acuity, Dark Adaptation, Fundus (eye), 03 medical and health sciences, 0302 clinical medicine, Night Blindness, Retinal Rod Photoreceptor Cells, Physiology (medical), Ophthalmology, Electroretinography, medicine, Humans, medicine.diagnostic_test, business.industry, Middle Aged, Incomplete congenital stationary night blindness, Calcium Channel Blockers, eye diseases, Sensory Systems, Negative erg, Left eye, 030221 ophthalmology & optometry, Female, sense organs, medicine.symptom, business, Erg, 030217 neurology & neurosurgery, medicine.drug
-
4دورية أكاديمية
المؤلفون: Tremblay, Francois, Parkinson, Joan
المصدر: Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. January 2008 116(1):41-47
-
5دورية أكاديميةERGs in female carriers of incomplete Congenital Stationary Night Blindness (I-CSNB) A family report
المؤلفون: Rigaudière, Florence, Roux, Catherine, Lachapelle, Pierre, Rosolen, Serge G., Bitoun, Pierre, Gay-Duval, Annie, Le Gargasson, Jean-François
المصدر: Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. September 2003 107(2):203-212
-
6
المؤلفون: Shalaw R. Sallah, Simon C Ramsden, Graeme C.M. Black, Panagiotis I. Sergouniotis, Mitra Kabir, Stephanie Barton, Nicholas Lench, Simon C. Lovell, Jamie M Ellingford, Amro Safadi, Rachel L. Taylor
المصدر: European Journal of Human Genetics
Sallah, S R, Sergouniotis, P I, Barton, S, Ramsden, S, Taylor, R L, Safadi, A, Kabir, M, Ellingford, J M, Lench, N, Lovell, S C & Black, G C M 2020, ' Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants : CACNA1F as an exemplar ', European Journal of Human Genetics, vol. 28, no. 9, pp. 1274-1282 . https://doi.org/10.1038/s41431-020-0623-yمصطلحات موضوعية: Genetic testing, Calcium Channels, L-Type, Computer science, In silico, Computational biology, Homology (biology), DNA sequencing, Article, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Genetics, Animals, Humans, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Receiver operating characteristic, Calcium Channels, L-Type/chemistry, Sequence Alignment/methods, Genetic variants, Sequence Analysis, DNA, Incomplete congenital stationary night blindness, Pathogenicity, Sequence Analysis, DNA/methods, Structural Homology, Protein, Mutation, Precision and recall, Genetic databases, Sequence Alignment, Genetic Testing/methods, 030217 neurology & neurosurgery
-
7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9
المؤلفون: Gilda Pelster, Jean-Charles Hoda, Francesca Zaghetto, Martina J. Sinnegger-Brauns, Alexander Trockenbacher, Carmen Müllner, Alexandra Koschak, Katrin Watschinger, Jörg Striessnig, Claudia Wild
المصدر: Biochemical and Biophysical Research Communications. 322:1341-1346
مصطلحات موضوعية: Gene isoform, medicine.medical_specialty, Calcium Channels, L-Type, Hypokalemic Periodic Paralysis, Biophysics, Malignant hyperthermia, L type ca2 channels, Cell Biology, Incomplete congenital stationary night blindness, Biology, medicine.disease, Biochemistry, Mice, Endocrinology, Hypokalemic periodic paralysis, Night Blindness, Internal medicine, medicine, Animals, Humans, Myocyte, Malignant Hyperthermia, Molecular Biology, Neuroscience
-
10
المؤلفون: Catherine Roux, Serge G. Rosolen, Jean-François Le Gargasson, Pierre Bitoun, Annie Gay-Duval, Florence Rigaudière, Pierre Lachapelle
المصدر: Documenta Ophthalmologica. 107:203-212
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, medicine.diagnostic_test, business.industry, Eye disease, Outer plexiform layer, Incomplete congenital stationary night blindness, medicine.disease, eye diseases, Sensory Systems, Vision disorder, Ophthalmology, Optics, medicine.anatomical_structure, Physiology (medical), medicine, sense organs, Scotopic vision, medicine.symptom, business, Psychology, Erg, Electroretinography, Photopic vision