المؤلفون: Leahy, Kate, E, Wright, Tom, Grudzinska Pechhacker, Monika, K, Audo, Isabelle, Tumber, Anupreet, Tavares, Erika, Macdonald, Heather, Locke, Jeff, Vandenhoven, Cynthia, Zeitz, Christina, Heon, Elise, Buncic, J Raymond, Raymond, Vincent, Ajoy

المساهمون: The Hospital for sick children Toronto (SickKids), University of Toronto, Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU)

المصدر: ISSN: 2073-4425 ; Genes ; https://hal.sorbonne-universite.fr/hal-03163606Test ; Genes, 2021, 12 (3), pp.330. ⟨10.3390/genes12030330⟩.

مصطلحات موضوعية: calcium channels/genetics, electroretinography, eye diseases, hereditary, myopia, night blindness/congenital, optic atrophy, retinal ganglion cells, retinal bipolar cells, tomography, optical coherence, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs

العلاقة: hal-03163606; https://hal.sorbonne-universite.fr/hal-03163606Test; https://hal.sorbonne-universite.fr/hal-03163606/documentTest; https://hal.sorbonne-universite.fr/hal-03163606/file/genes-12-00330-v2.pdfTest

الإتاحة: https://doi.org/10.3390/genes12030330Test
https://hal.sorbonne-universite.fr/hal-03163606Test
https://hal.sorbonne-universite.fr/hal-03163606/documentTest
https://hal.sorbonne-universite.fr/hal-03163606/file/genes-12-00330-v2.pdfTest

المؤلفون: Kate E Leahy, Christina Zeitz, Ajoy Vincent, Jeff Locke, Heather MacDonald, Monika K Grudzinska Pechhacker, Tom Wright, Erika Tavares, Cynthia VandenHoven, Elise Héon, Anupreet Tumber, J. Raymond Buncic, Isabelle Audo

المساهمون: The Hospital for sick children [Toronto] (SickKids), University of Toronto, Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Gestionnaire, HAL Sorbonne Université 5, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Genes
Genes, MDPI, 2021, 12 (3), pp.330. ⟨10.3390/genes12030330⟩
Genes, 2021, 12 (3), pp.330. ⟨10.3390/genes12030330⟩
Volume 12
Issue 3
Web of Science
Genes, Vol 12, Iss 330, p 330 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, optical coherence, lcsh:QH426-470, genetic structures, calcium channels/genetics, Color vision, tomography, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ophthalmology, Genetics, medicine, optic atrophy, Scotopic vision, myopia, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Retinal thinning, Genetics (clinical), Congenital stationary night blindness, medicine.diagnostic_test, retinal bipolar cells, business.industry, Optic disc pallor, eye diseases, Retinal, night blindness/congenital, lcsh:Genetics, 030104 developmental biology, chemistry, retinal ganglion cells, [SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, 030221 ophthalmology & optometry, CACNA1F, sense organs, electroretinography, business, hereditary, Electroretinography, Photopic vision

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115aa4f0b6cab739a7bc48e92ab075a1Test
https://hal.sorbonne-universite.fr/hal-03163606Test

المؤلفون: Kate E, Leahy, Tom, Wright, Monika K, Grudzinska Pechhacker, Isabelle, Audo, Anupreet, Tumber, Erika, Tavares, Heather, MacDonald, Jeff, Locke, Cynthia, VandenHoven, Christina, Zeitz, Elise, Heon, J Raymond, Buncic, Ajoy, Vincent

المصدر: Genes

مصطلحات موضوعية: Adult, Male, optical coherence, genetic structures, Adolescent, calcium channels/genetics, tomography, Refraction, Ocular, Retina, Article, Young Adult, Night Blindness, Electroretinography, Myopia, Humans, optic atrophy, Child, Aged, Retrospective Studies, retinal bipolar cells, eye diseases, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, night blindness/congenital, Middle Aged, retinal ganglion cells, CACNA1F, Female, sense organs, hereditary, Tomography, Optical Coherence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::6be5a8be0250b0804aefa339da062885Test
https://pubmed.ncbi.nlm.nih.gov/33668843Test

المؤلفون: Audo, I., Kohl, S., Leroy, B.P., Munier, F.L., Guillonneau, X., Mohand-Saïd, S., Bujakowska, K., Nandrot, E.F., Lorenz, B., Preising, M., Kellner, U., Renner, A.B., Bernd, A., Antonio, A., Moskova-Doumanova, V., Lancelot, M.E., Poloschek, C.M., Drumare, I., Defoort-Dhellemmes, S., Wissinger, B., Léveillard, T., Hamel, C.P., Schorderet, D.F., De Baere, E., Berger, W., Jacobson, S.G., Zrenner, E., Sahel, J.A., Bhattacharya, S.S., Zeitz, C.

المصدر: American journal of human genetics, vol. 85, no. 5, pp. 720-729

مصطلحات موضوعية: Electroretinography, Female, Genes, Recessive, Heterozygote, Homozygote, Humans, Male, Models, Genetic, Mutation, Night Blindness/congenital, Night Blindness/genetics, Night Blindness/physiopathology, Nuclear Family, Pedigree, TRPM Cation Channels/genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19896113; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_14EA38AF16CBTest; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2009.10.013Test
https://serval.unil.ch/notice/serval:BIB_14EA38AF16CBTest

المؤلفون: Zeitz, C., Labs, S., Lorenz, B., Forster, U., Uksti, J., Kroes, H.Y., De Baere, E., Leroy, B.P., Cremers, F.P., Wittmer, M., van Genderen, M.M., Sahel, J.A., Audo, I., Poloschek, C.M., Mohand-Saïd, S., Fleischhauer, J.C., Hüffmeier, U., Moskova-Doumanova, V., Levin, A.V., Hamel, C.P., Leifert, D., Munier, F.L., Schorderet, D.F., Zrenner, E., Friedburg, C., Wissinger, B., Kohl, S., Berger, W.

المصدر: Investigative Ophthalmology and Visual Science, vol. 50, no. 12, pp. 5919-5926

مصطلحات موضوعية: Adolescent, Calcium Channels, L-Type/genetics, Calcium-Binding Proteins/genetics, Child, Cyclic Nucleotide Phosphodiesterases, Type 6/genetics, DNA Mutational Analysis, Eye Proteins/genetics, Female, Gene Expression Profiling, Genotype, Heterotrimeric GTP-Binding Proteins/genetics, Humans, Male, Mutation, Night Blindness/congenital, Night Blindness/genetics, Oligonucleotide Array Sequence Analysis, Pedigree, Polymerase Chain Reaction, Proteoglycans/genetics, Receptors, Metabotropic Glutamate/genetics, Retinal Diseases/congenital, Retinal Diseases/genetics, Rhodopsin/genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19578023; info:eu-repo/semantics/altIdentifier/pissn/1552-5783[electronic], 0146-0404[linking]; https://serval.unil.ch/notice/serval:BIB_CF23ADA2AD8ATest

الإتاحة: https://doi.org/10.1167/iovs.09-3548Test
https://serval.unil.ch/notice/serval:BIB_CF23ADA2AD8ATest

المؤلفون: Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F. X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W.

المصدر: American Journal of Human Genetics, vol. 79, no. 4, pp. 657-67

مصطلحات موضوعية: Adolescent Adult Amino Acid Sequence Calcium Channels, L-Type/genetics Calcium-Binding Proteins/chemistry/*genetics Chromosomes, Human, Pair 11 Electroretinography Exons Female Gene Deletion *Genes, Recessive Humans Male Middle Aged Molecular Sequence Data *Mutation Mutation, Missense Night Blindness/congenital/*genetics/physiopathology Pedigree Reverse Transcriptase Polymerase Chain Reaction Sequence Alignment Visual Acuity

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16960802; info:eu-repo/semantics/altIdentifier/pissn/0002-9297; https://serval.unil.ch/notice/serval:BIB_F7BF23FFFFA7Test

الإتاحة: https://doi.org/10.1086/508067Test
https://serval.unil.ch/notice/serval:BIB_F7BF23FFFFA7Test

المؤلفون: Abramowicz, Marc, Ribai A Nyam, Pascale, Cordonnier, Monique

المصدر: American journal of medical genetics. Part A, 132A (1

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Child, Preschool, Chromosomes, Human, Pair 17 -- genetics, Pair 7 -- genetics, X -- genetics, Consanguinity, DNA Mutational Analysis, Family Health, Female, Fragile X Mental Retardation Protein, Genes, Recessive -- genetics, Haplotypes, Humans, Linkage (Genetics), Male, Microsatellite Repeats, Nerve Tissue Proteins -- genetics, Night Blindness -- congenital, Night Blindness -- genetics, Pedigree, RNA-Binding Proteins -- genetics, Receptors, Androgen -- genetics, Trinucleotide Repeats -- genetics, Hemeralopia, Homozygosity mapping

وصف الملف: No full-text files

العلاقة: uri/info:doi/10.1002/ajmg.a.30372; uri/info:pmid/15551339; uri/info:scp/11244318170; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53594Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53594Test

المصدر: American journal of medical genetics. Part A, 132A (1

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Child, Preschool, Chromosomes, Human, Pair 17 -- genetics, Chromosomes, Human, Pair 7 -- genetics, Chromosomes, Human, X -- genetics, Consanguinity, DNA Mutational Analysis, Family Health, Female, Fragile X Mental Retardation Protein, Genes, Recessive -- genetics, Haplotypes, Humans, Linkage (Genetics), Male, Microsatellite Repeats, Nerve Tissue Proteins -- genetics, Night Blindness -- congenital, Night Blindness -- genetics, Pedigree, RNA-Binding Proteins -- genetics, Receptors, Androgen -- genetics, Trinucleotide Repeats -- genetics, Hemeralopia, Homozygosity mapping, Nyctalopia, ON pathway, Synaptic connectivity, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53594Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest

المصدر: American journal of medical genetics. Part A, 132A (1

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Child, Preschool, Chromosomes, Human, Pair 17 -- genetics, Chromosomes, Human, Pair 7 -- genetics, Chromosomes, Human, X -- genetics, Consanguinity, DNA Mutational Analysis, Family Health, Female, Fragile X Mental Retardation Protein, Genes, Recessive -- genetics, Haplotypes, Humans, Linkage (Genetics), Male, Microsatellite Repeats, Nerve Tissue Proteins -- genetics, Night Blindness -- congenital, Night Blindness -- genetics, Pedigree, RNA-Binding Proteins -- genetics, Receptors, Androgen -- genetics, Trinucleotide Repeats -- genetics, Hemeralopia, Homozygosity mapping, Nyctalopia, ON pathway, Synaptic connectivity, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53594Test
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLLTest

المؤلفون: Caccamise, William C.

المصدر: Nov; 9; 11; 576819 Bytes

مصطلحات الفهرس: Night Blindness -- diagnosis, Night Blindness -- pathology, Night Blindness -- congenital, Text, PDF

URL: http://cdm15290.contentdm.oclc.org/u?/p15290coll6,4102Test
http://worldcat.org/search?q=on:AHH+http://cdm15290.contentdm.oclc.org/cgi-bin/oai2.exe+p15290coll6+CNTCOLLTest
http://worldcat.org/oclc/794939495/viewonlineTest
Bulletin of the U.S. Army Medical Department, Vol. 9, no. 11 (Nov. 1949), p. 920-928, (OCoLC) 01606253