المؤلفون: Suzanne Yzer, Bart P Leroy, Elfride De Baere, Thomy J De Ravel, Marijke N Zonneveld, Krysta Voesenek, Ulrich Kellner, Jose P Martinez Ciriano, Jan-Tjeerd H N De Faber, Klaus Rohrschneider, Ronald Roepman

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://iovs.arvojournals.org/data/Journals/IOVS/933440/z7g00306001167.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1062.425; http://iovs.arvojournals.org/data/Journals/IOVS/933440/z7g00306001167.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1062.425
http://iovs.arvojournals.org/data/Journals/IOVS/933440/z7g00306001167.pdf

المؤلفون: Petra van Setten, Amanda Branten, Dirk Lefeber, Uwe Kornak, Eva Morava, Sascha Vermeer, Jefte M. Drijvers, Charles W. O'Neill, Alphons de Jong, Ron A. Wevers, Cor W. R. J. Cremers, Joris H. Robben, Angelien Heister, Jirko Kühnisch, Hedi L Claahsen-van der Grinten, Michèl A.A.P. Willemsen, Peter M.T. Deen, Hannie Kremer, Krysta Voesenek, Sabine Stumpp

المصدر: Journal of Clinical Endocrinology and Metabolism, 96, 1, pp. E189-98
Journal of Clinical Endocrinology and Metabolism, 96, E189-98

مصطلحات موضوعية: medicine.medical_specialty, Hypophosphatemia, Hearing loss, Endocrinology, Diabetes and Metabolism, Ankylosis, Clinical Biochemistry, Mutant, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Consanguinity, Deafness, Neuroinformatics [DCN 3], Biology, Biochemistry, Genomic disorders and inherited multi-system disorders [IGMD 3], Gene product, Endocrinology, JCEM Online: Advances in the Genetics, Intellectual Disability, Internal medicine, medicine, Humans, Phosphate Transport Proteins, Missense mutation, Genetics, Hormonal regulation [IGMD 6], Biochemistry (medical), Calcinosis, Heterozygote advantage, Glycostation disorders [IGMD 4], medicine.disease, Pedigree, Bone Diseases, Metabolic, Phenotype, Editorial, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Mutation, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Joints, medicine.symptom, Perception and Action Glycostation disorders [DCN 1]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfb7e6daf9bb96897e8f3e93f0c3cae6
https://doi.org/10.1210/jc.2010-1539

المؤلفون: Àlex Robert-Moreno, Krysta Voesenek, Silvia Naranjo, José Luis Gómez-Skarmeta, Hannie Kremer, John Economides, Elisa de la Calle-Mustienes, Berta Alsina, Haris Kokotas, Maria Grigoriadou, Nele Hilgert, Guy Van Camp, Michael B. Petersen, Felipe Moreno

المساهمون: Junta de Andalucía, Ministerio de Educación y Ciencia (España), Oticon Foundation, Universidad Pablo de Olavide, Consejo Superior de Investigaciones Científicas (España)

المصدر: Human Genetics
Human Genetics, 128, 411-9
Human Genetics, 128, 4, pp. 411-9
Digital.CSIC. Repositorio Institucional del CSIC
instname
Recercat. Dipósit de la Recerca de Catalunya
Human genetics

مصطلحات موضوعية: Male, Embryo, Nonmammalian, Genetics and epigenetic pathways of disease [NCMLS 6], 5' Flanking Region, Xenopus, DNA Mutational Analysis, Regulatory Sequences, Nucleic Acid, Hearing, Genetics(clinical), Genetics (clinical), In Situ Hybridization, Original Investigation, Genetics, Gene Expression Regulation, Developmental, Ear, Phenotype, Cell biology, Pedigree, medicine.anatomical_structure, Enhancer Elements, Genetic, Embryo, Female, Functional Neurogenomics [DCN 2], Recombinant Fusion Proteins, POU3F4 protein, 5' flanking region, Green Fluorescent Proteins, Biology, medicine, otorhinolaryngologic diseases, Animals, Humans, Inner ear, Enhancer, Hearing Loss, Gene, Transcription factor, Family Health, Base Sequence, Green fluorescent proteins, biology.organism_classification, Microscopy, Fluorescence, POU domain factors, Ear, Inner, Recombinant fusion proteins, POU Domain Factors, Human medicine, Otic vesicle, sense organs, Proteïnes, Gene Deletion, Oïda

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::960efc13ee630bbc198df69ce5c1a4f1
http://europepmc.org/articles/PMC2939330

المؤلفون: F. Lucy Raymond, Daniel Amram, Agnieszka Charzewska, Hans-Hilger Ropers, Yue Xiong, Sylvie Odent, Fatma Doagu, Christian Gilissen, Andreas Busche, Bert B.A. de Vries, Tjitske Kleefstra, Patrick Rump, Lisenka E.L.M. Vissers, Michèl A.A.P. Willemsen, Anneke T. Vulto-van Silfhout, Hao Hu, Jacqueline Vigneron, Ute Fischer, Irma Järvelä, M Bienek, Tadashi Nakagawa, Vera M. Kalscheuer, Alessandra Baumer, Arjan P.M. de Brouwer, Stefan A. Haas, Anita Rauch, Anju K. Philips, Jörg Müsebeck, Jacek Lenart, A. James Barkovich, Mirja Somer, Inge B. Mathijssen, Jamel Chelly, Krysta Voesenek, Andreas Tzschach, Han G. Brunner, Nadia Bahi-Buisson, Nicolas Lebrun, Helger G. Yntema, Kristiina Avela, Ewa Obersztyn, Willy M. Nillesen, Hans van Bokhoven, Magdalena Nawara, Karine Poirier

المساهمون: Department of human genetics, Radboud University Medical Center [Nijmegen]-Nijmegen Centre for Molecular Life Sciences-Institute for Genetic and Metabolic Disorders, Service de Neuropédiatrie, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Human Genetics, Radboud University Medical Center [Nijmegen], Human Molecular Genetics, Department of Anatomy, Embryology, Physiology, Muscle et pathologies, Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Dpt of Operative Dentistry, Section of Periodontology, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institute for Infectiology (IMED), Friedrich-Loeffler-Institut (FLI), 849 Department of Human Genetics, Department of Genetics, Department of Medical and Clinical Genetics [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Department of Human Genetics, 907-00-365, Netherlands Organisation for Health Research and Development, FP7 241995, European Commission, GM067113, Foundation for the National Institutes of Health, 2009(2)-81, Dutch Brain Foundation, German ministry of education and researech (MRNET), max planck innovation funds, NN407133739, Polish Ministry of Science and Higher Education, Sigrid Julius foundation, van Leersum fonds, University of Zürich [Zürich] (UZH), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Université Montpellier 1 ( UM1 ) -IFR3-Institut National de la Santé et de la Recherche Médicale ( INSERM ), University of Zürich [Zürich] ( UZH ), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institute for Infectiology ( IMED ), Friedrich-Loeffler-Institut ( FLI ), Department of Medical Genetics, University of Helsinki

المصدر: Human Mutation, 36, 106-17
Human Mutation
Human Mutation, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩
Human mutation, vol 36, iss 1
Europe PubMed Central
Human mutation, 36(1), 106-117. Wiley-Liss Inc.
Human Mutation, Wiley, 2015, 36 (1), pp.106-117. ⟨10.1002/humu.22718⟩
Human Mutation, Wiley, 2015, 36 (1), pp.106-117. 〈10.1002/humu.22718〉
Human Mutation, 36, 1, pp. 106-17
Human Mutation, 36(1), 106-117. Wiley

مصطلحات موضوعية: Male, Microcephaly, [SDV]Life Sciences [q-bio], PROTEIN, Cell Cycle Proteins, Bioinformatics, Mental Retardation, Intellectual disability, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics (clinical), Cells, Cultured, ComputingMilieux_MISCELLANEOUS, Genetics, Pediatric, Genetics & Heredity, Cultured, Brain, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Cullin Proteins, UBIQUITIN E3 LIGASE, FAMILY, Pedigree, Malformations of Cortical Development, medicine.anatomical_structure, intellectual disability, Child, Preschool, Neurological, hydrocephalus, Sequence Analysis, cortical dysplasia, Adult, Adolescent, Cells, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Nerve Tissue Proteins, Biology, Article, White matter, Young Adult, Rare Diseases, Neuroimaging, Clinical Research, medicine, Humans, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], SHORT STATURE, Preschool, Genetic Association Studies, WDR62, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], [ SDV ] Life Sciences [q-bio], Genetic heterogeneity, MUTATIONS, DELETION, Neurosciences, Infant, LINKED MENTAL-RETARDATION, Sequence Analysis, DNA, DNA, X-Linked, medicine.disease, GENE, Brain Disorders, HEK293 Cells, Cerebral malformations, Mental Retardation, X-Linked, Congenital Structural Anomalies, CUL4B, mutation, Ventriculomegaly

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c46c4698dc14dcd72546c945bd16a12
http://hdl.handle.net/2066/154408

المؤلفون: Vera M. Kalscheuer, Roel Hordijk, Astrid R. Oudakker, Sander B. Nabuurs, B. B. A. De Vries, Annemieke Aartsma-Rus, Tjitske Kleefstra, T. van Essen, J.T. den Dunnen, Jamel Chelly, Krysta Voesenek, Ben C.J. Hamel, Ingrid E.C. Verhaart, Helger G. Yntema, Wei Chen, J.M. Hordijk-Hos, H Van Bokhoven, Hao Hu, A.P.M. de Brouwer

المصدر: European Journal of Human Genetics, 22, 4, pp. 480-5
European Journal of Human Genetics, 22(4), 480-485
European Journal of Human Genetics, 22, 480-5
European journal of human genetics
European Journal of Human Genetics, 22(4), 480-485. Nature Publishing Group

مصطلحات موضوعية: Male, Protein Conformation, X-linked intellectual disability, Muscular Dystrophies, Exon, Muscular dystrophy, Dystroglycans, Base Pairing, Cells, Cultured, Genetics (clinical), Sequence Deletion, Genetics, biology, SITE, Genetic Diseases, X-Linked, Exons, Pedigree, PCR, TRANSCRIPT, Dystrophin, Adult, EXPRESSION, musculoskeletal diseases, DUCHENNE, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Locus (genetics), Article, dystrophin, WW DOMAIN, Genetic linkage, Intellectual Disability, DMD, medicine, Humans, RNA, Messenger, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Aged, locus, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], BETA-DYSTROGLYCAN, LINKED MENTAL-RETARDATION, DNA, medicine.disease, Molecular biology, GENE, Genetic Loci, Mutation, MRX85, biology.protein, Creatine kinase, Lod Score, Dp71

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aceb32ea4b1d8fea2f2e7189049198f3
https://doi.org/10.1038/ejhg.2013.169

المؤلفون: Ellen A.W. Blokland, Frans P.M. Cremers, Lina Zelinger, Dikla Bandah-Rozenfeld, Dirk J. Lefeber, Tim M. Strom, Karlien L.M. Coene, Francesco Testa, Inbar Erdinest, Caroline C W Klaver, Francesca Simonelli, Anneke I. den Hollander, Krysta Voesenek, L. Ingeborgh van den Born, Anna M. Siemiatkowska, Raheel Qamar, Rob W.J. Collin, Muhammad Imran Khan, Dror Sharon, Sandro Banfi, Eyal Banin

المساهمون: Hematology, Ophthalmology, Bandah Rozenfeld, D, Collin, Rw, Banin, E, Ingeborgh van den Born, L, Coene, Kl, Siemiatkowska, Am, Zelinger, L, Khan, Mi, Lefeber, Dj, Erdinest, I, Testa, Francesco, Simonelli, Francesca, Voesenek, K, Blokland, Ea, Strom, Tm, Klaver, Cc, Qamar, R, Banfi, Sandro, Cremers, Fp, Sharon, D, den Hollander, Ai

المصدر: American Journal of Human Genetics, 87(2), 199-208. Cell Press
American Journal of Human Genetics, 87, 2, pp. 199-208
American Journal of Human Genetics, 87, 199-208

مصطلحات موضوعية: Adult, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Fundus Oculi, Genetic Linkage, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Gene mutation, Biology, Interphotoreceptor matrix, Neuroinformatics [DCN 3], medicine.disease_cause, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Exon, Chromosome Segregation, Retinitis pigmentosa, Chlorocebus aethiops, medicine, Genetics, Missense mutation, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Genetics (clinical), Aged, Mutation, Base Sequence, Homozygote, Chromosome Mapping, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Pedigree, COS Cells, Mutation testing, Female, Mutant Proteins, Proteoglycans, Retinitis Pigmentosa, Subcellular Fractions

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eeb833962b9fd1bf931d4b8d99275e0
https://europepmc.org/articles/PMC2917719/

المؤلفون: Uwe Wolfrum, Dan Doherty, Stef J.F. Letteboer, Federico M. Farin, Ian A. Glass, Theo A. Peters, Krysta Voesenek, Melissa A. Parisi, Sylvia E. C. van Beersum, Ronald Roepman, Frans P.M. Cremers, Tina Märker, Han G. Brunner, Nicholas T. Gorden, Hamit Özyürek, Nine V A M Knoers, Hester Y. Kroes, Heleen H. Arts, Aileen Kartono

المساهمون: Ondokuz Mayıs Üniversitesi

المصدر: Nature Genetics, 39, 7, pp. 882-8
Nature Genetics, 39, 882-8

مصطلحات موضوعية: Adult, Male, Health aging / healthy living [IGMD 5], Eye Diseases, Genetics and epigenetic pathways of disease [NCMLS 6], TMEM67, Molecular Sequence Data, Membrane transport and intracellular motility [NCMLS 5], Biology, medicine.disease_cause, Joubert syndrome, Cell Line, Genomic disorders and inherited multi-system disorders [IGMD 3], Nephronophthisis, Cerebellar Diseases, Genetics, medicine, Perception and Action [DCN 1], Basal body, Animals, Humans, Neurosensory disorders [UMCN 3.3], Cilia, Adaptor Proteins, Signal Transducing, Renal disorder [IGMD 9], Mutation, Cilium, Ciliary transition zone, Proteins, Syndrome, medicine.disease, Pedigree, Rats, Cytoskeletal Proteins, Genetic defects of metabolism [UMCN 5.1], RPGRIP1L, Female, Kidney Diseases, Functional Neurogenomics [DCN 2], Ciliary Motility Disorders

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea824477e0ab64d88620c11ab2df7f37
https://hdl.handle.net/2066/53630

المؤلفون: Thomas Meitinger, Irma Lopez, Marijke N. Zonneveld, L. Ingeborgh van den Born, Carel B. Hoyng, Maarten L. Arends, Krysta Voesenek, Suzanne Yzer, Han G. Brunner, Anneke I. den Hollander, Frans P.M. Cremers, Robert K. Koenekoop, Klaus Rohrschneider, Tim M. Strom

المصدر: American Journal of Human Genetics, 79, 3, pp. 556-61
American Journal of Human Genetics, 79, 556-61

مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, TMEM67, Cell Cycle Proteins, Optic Atrophy, Hereditary, Leber, Biology, medicine.disease_cause, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Antigens, Neoplasm, Report, Perception and Action [DCN 1], Genetics, Intronic Mutation, medicine, Neurosensory disorders [UMCN 3.3], Humans, Genetics(clinical), Allele, Gene, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, Mutation, CRB1, Chromosomes, Human, Pair 12, Homozygote, Ciliary transition zone, Exons, eye diseases, Neoplasm Proteins, Pedigree, Alternative Splicing, Cytoskeletal Proteins, Evaluation of complex medical interventions [NCEBP 2], RPGRIP1L, 030221 ophthalmology & optometry, RNA Splice Sites, sense organs

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d409cd3ab9b09e86c65cde9fc93c9b49
https://doi.org/10.1086/507318

المؤلفون: Uwe Kornak, H.L. Claahsen-van der Grinten, Peter M.T. Deen, Hannie Kremer, Angelien Heister, Eva Morava, Joris H. Robben, Sascha Vermeer, Cor W. R. J. Cremers, Jefte M. Drijvers, Ron A. Wevers, P. van Setten, Michèl A.A.P. Willemsen, Jirko Kühnisch, A. de Jong, Dirk Lefeber, C.W. O'Neill, A. Branten, Krysta Voesenek, Sabine Stumpp

المصدر: Bone. 48:S154-S155

مصطلحات موضوعية: Genetics, Histology, Skeletal disorder, Physiology, business.industry, Spondyloarthropathy, Endocrinology, Diabetes and Metabolism, Mutation (genetic algorithm), Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0ee1b8b1a5174ef0c0a4d2b828091051
https://doi.org/10.1016/j.bone.2011.03.334

المؤلفون: Elena Aller, Teresa Jaijo, Erwin Van Wijk, Inga Ebermann, Ferry Kersten, Gema García-garcía, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/2c/60/Mol_Vis_2010_Mar_23_16_495-500.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.354.8369

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.354.8369

المؤلفون: Silvia Naranjo, Krysta Voesenek, Elisa Calle-mustienes, Alex Robert-moreno, Haris Kokotas, Maria Grigoriadou, John Economides, Guy Van, Camp Nele Hilgert, Felipe Moreno, Berta Alsina, Michael B. Petersen, Hannie Kremer, José Luis Gómez-skarmeta, J. L. Gómez-skarmeta, K. Voesenek, H. Kokotas, M. Grigoriadou, M. B. Petersen, J. Economides

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/11/cf/Hum_Genet_2010_Oct_29_128(4)_411-419.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.351.5065

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.351.5065

المؤلفون: Suzanne Yzer, Bart P. Leroy, Elfride De Baere, Thomy J. De Ravel, Marijke N. Zonneveld, Krysta Voesenek, Ulrich Kellner, Jose P. Martinez Ciriano, Jan-tjeerd H. N. De Faber, Klaus Rohrschneider, Ronald Roepman, Frans P. M. Cremers

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.iovs.org/cgi/reprint/47/3/1167.pdf.

مصطلحات موضوعية: Gent (Verkennend Europees Onderzoeksproject 011V1602

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.130.3196; http://www.iovs.org/cgi/reprint/47/3/1167.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.130.3196
http://www.iovs.org/cgi/reprint/47/3/1167.pdf

المؤلفون: Krysta Voesenek, Franc¸oise Meire, Ronald Roepman, Thomy de Ravel, José P Martinez Ciriano, Johannes R.M. Cruysberg, Ulrich Kellner, Elfride De Baere, Bart P. Leroy, L. Ingeborgh van den Born, Ingele Casteels, Anneke I. den Hollander, Norka van Moll-Ramirez, Jan-Tjeerd H. N. de Faber, Klaus Rohrschneider, Rando Allikmets, Frans P.M. Cremers, Marijke N. Zonneveld, Suzanne Yzer

المساهمون: Clinical sciences, Medical Genetics

المصدر: Investigative Ophthalmology and Visual Science, 47, 1167-76
Investigative Ophthalmology and Visual Science, 47, 3, pp. 1167-76

مصطلحات موضوعية: Receptors, Cell Surface/genetics, Male, Carrier Proteins/genetics, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Microarray, DNA Mutational Analysis, Oligonucleotide Array Sequence Analysis/methods, Blindness, medicine.disease_cause, Alcohol Oxidoreductases/genetics, Blindness/congenital, Genotype, Perception and Action [DCN 1], Nerve Tissue Proteins/genetics, Neurosensory disorders [UMCN 3.3], Child, Renal disorder [IGMD 9], Oligonucleotide Array Sequence Analysis, Genetics, Mutation, CRB1, Phenotype, Child, Preschool, GUCY2D, Female, Genetic Testing/methods, Retinitis Pigmentosa, cis-trans-Isomerases, Sequence analysis, Guanylate Cyclase/genetics, Nerve Tissue Proteins, Receptors, Cell Surface, Eye Proteins/genetics, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Retinitis Pigmentosa/congenital, medicine, Humans, Genetic Testing, Membrane Proteins/genetics, Eye Proteins, Adaptor Proteins, Signal Transducing, Infant, Membrane Proteins, eye diseases, Alcohol Oxidoreductases, Guanylate Cyclase, Cis-trans-Isomerases, Gene chip analysis, sense organs, Carrier Proteins

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c414e17a40bbb91059effcd5ecc5683
https://doi.org/10.1167/iovs.05-0848