المؤلفون: Marianna Paulis, Lucia Susani, Alessandra Castelli, Teruhiko Suzuki, Takahiko Hara, Letizia Straniero, Stefano Duga, Dario Strina, Stefano Mantero, Elena Caldana, Lucia Sergi Sergi, Anna Villa, Paolo Vezzoni

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 369-377 (2020)

مصطلحات موضوعية: genomic disorders, induced pluripotent stem cells, genetic therapy, chromosome transfer, chromosome transplantation, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050120300140Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/cafafd205a104ab4b7eb5032e65b38eaTest

المؤلفون: Kornelia Neveling, Stephanie Hipp, Hans Scheffer, Michael Kwint, Joris A. Veltman, Susanne Kohl, Bernd Wissinger, Tzipora C Falik-Zaccai, Stef J.F. Letteboer, Eberhart Zrenner, Ellen A.W. Blokland, Anneke I. den Hollander, Frans P.M. Cremers, Alejandro Estrada-Cuzcano, B. Jeroen Klevering, Eyal Banin, Rob W.J. Collin, Dorus A. Mans, Ramon A.C. van Huet, Sabine Gijsen, Ygal Rotenstreich, Dror Sharon, Ronald Roepman

المصدر: The American Journal of Human Genetics; Vol 90
American Journal of Human Genetics, 90, 102-9
American Journal of Human Genetics, 90, 1, pp. 102-9

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Retinal Pigment Epithelium, Biology, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Exon, Consanguinity, 0302 clinical medicine, Bardet–Biedl syndrome, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Report, Retinitis pigmentosa, Retinal Dystrophies, medicine, Genetics, Missense mutation, Humans, Genetics(clinical), Age of Onset, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Retinal pigment epithelium, Base Sequence, Chromosome Mapping, Infant, Proteins, Exons, medicine.disease, Disease gene identification, Introns, medicine.anatomical_structure, Evaluation of complex medical interventions [NCEBP 2], Child, Preschool, Mutation, 030221 ophthalmology & optometry, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0330fc97286bbd571e86c34d8f3906Test

المؤلفون: Lisa G. Shaffer, Carrie Hanscom, Sarah H. Elsea, Stuart Schwartz, Sureni V. Mullegama, Klaske D. Lichtenbelt, Lilei Zhang, Charles A. Williams, Bai-Lin Wu, Yiping Shen, Colby Chiang, Louise Brueton, Margot I. Van Allen, Julie M. Gastier-Foster, Yu An, Cynthia C. Morton, Devon Lamb Thrush, Marco Fichera, Bregje W.M. van Bon, Jill A. Rosenfeld, Caroline Astbury, Aditi Shah Parikh, Jeffrey W. Innis, Michael E. Talkowski, Bert B.A. de Vries, Dennis Bartholomew, Robert E. Pyatt, Lesley C. Adès, James F. Gusella, Elena A. Repnikova, Amelia M. Lindgren, Douglas M. Ruderfer, Sekar Kathiresan, Carl Ernst, Corrado Romano

المصدر: ResearcherID
American Journal of Human Genetics, 89, 4, pp. 551-63
American Journal of Human Genetics, 89, 551-63

مصطلحات موضوعية: Adult, Male, Adolescent, Locus (genetics), Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Biology, Bioinformatics, Article, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Genetics(clinical), Epigenetics, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Epilepsy, Syndrome, Microdeletion syndrome, medicine.disease, 3. Good health, DNA-Binding Proteins, Phenotype, Autism spectrum disorder, Child Development Disorders, Pervasive, Case-Control Studies, Child, Preschool, Chromosomes, Human, Pair 2, Chromosomal region, CpG Islands, Female, Haploinsufficiency, 030217 neurology & neurosurgery, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::551855da607c896930f56931bc0379f7Test
https://europepmc.org/articles/PMC3188839Test/

المؤلفون: Maria Antonietta Mencarelli, Daniela Concolino, Michele Fimiani, Nico Leijsten, Fabio Macciardi, Rolph Pfundt, Lidia Larizza, Gaia Roversi, Eric F.P.M. Schoenmakers, Ludovica Volpi, Andrea Calabria, Elisa Colombo

المساهمون: Volpi, L, Roversi, G, Colombo, E, Leijsten, N, Concolino, D, Calabria, A, Mencarelli, M, Fimiani, M, Macciardi, F, Pfundt, R, Schoenmakers, E, Larizza, L

المصدر: American Journal of Human Genetics, 86, 72-6
American Journal of Human Genetics, 86, 1, pp. 72-6
The American Journal of Human Genetics; Vol 86

مصطلحات موضوعية: Male, DNA Mutational Analysis, medicine.disease_cause, 0302 clinical medicine, Genotype, Genetics(clinical), Rothmund–Thomson syndrome, Genetics (clinical), Genetics, Mutation, 0303 health sciences, Homozygote, Rothmund-Thomson Syndrome, Genomics, Pedigree, 3. Good health, 030220 oncology & carcinogenesis, Female, Erratum, Human, Heterozygote, Neutropenia, 030303 biophysics, Poikiloderma, Biology, Skin Diseases, Deep sequencing, DNA sequencing, Open Reading Frame, DNA Mutational Analysi, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnosis, Differential, Evolution, Molecular, Open Reading Frames, 03 medical and health sciences, Genetic linkage, Report, medicine, Humans, Abnormalities, Multiple, Gene, 030304 developmental biology, Skin Disease, Genodermatosis, Sequence Analysis, DNA, medicine.disease, Human genetics, Genomic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b8b7a1ee0c4eedc67b6746fd1b8b61Test
https://europepmc.org/articles/PMC2933345Test/

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eeb833962b9fd1bf931d4b8d99275e0Test
https://europepmc.org/articles/PMC2917719Test/

المؤلفون: Patrick L. M. Huygen, Erwin van Wijk, Lies H. Hoefsloot, Jaap Oostrik, Cor W. R. J. Cremers, Hannie Kremer, Henricus P. M. Kunst, Tim M. Strom, Ronald J.C. Admiraal, Margit Schraders

المصدر: American Journal of Human Genetics, 86, 604-10
American Journal of Human Genetics, 86, 4, pp. 604-10

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Hearing loss, Nonsense mutation, Molecular Sequence Data, Locus (genetics), Genes, Recessive, Biology, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, Exon, Report, medicine, Genetics, otorhinolaryngologic diseases, Missense mutation, Humans, Genetics(clinical), Amino Acid Sequence, Hearing Loss, Gene, Genetics (clinical), Sequence Homology, Amino Acid, Homozygote, Receptor-Like Protein Tyrosine Phosphatases, Class 3, Middle Aged, Vestibular Function Tests, Pedigree, Transmembrane domain, Vestibular Diseases, Codon, Nonsense, Case-Control Studies, Female, medicine.symptom, 5' Untranslated Regions, Functional Neurogenomics [DCN 2], Orthologous Gene

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb42060e56ba52a5a318aba2b8e4c571Test
https://europepmc.org/articles/PMC2850434Test/

المؤلفون: Camiel J. F. Boon, Carel B. Hoyng, B. Jeroen Klevering, Marijke N. Zonneveld-Vrieling, Anneke I. den Hollander, Sander B. Nabuurs, Ellen A.W. Blokland, Frans P.M. Cremers

المصدر: American Journal of Human Genetics, 82, 2, pp. 516-23
American Journal of Human Genetics, 516-523
STARTPAGE=516;ENDPAGE=523;ISSN=0002-9297;TITLE=American Journal of Human Genetics
American Journal of Human Genetics, 2, pp. 516-523
American Journal of Human Genetics, 82, 516-23

مصطلحات موضوعية: Proband, Adult, Male, Models, Molecular, Heterozygote, Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Bioinformatics, Molecular Sequence Data, Inheritance Patterns, Genes, Recessive, Retinal Drusen, Biology, Drusen, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Macular Degeneration, Report, Genetics, medicine, Perception and Action [DCN 1], Missense mutation, Neurosensory disorders [UMCN 3.3], Humans, Protein Isoforms, Genetics(clinical), Allele, Fluorescein Angiography, Genetics (clinical), Aged, Retinal pigment epithelium, Base Sequence, Sequence Analysis, DNA, Macular degeneration, Middle Aged, medicine.disease, eye diseases, Pedigree, medicine.anatomical_structure, Evaluation of complex medical interventions [NCEBP 2], Growth and differentiation [NCMLS 3], Factor H, Complement Factor H, Mutation, Female, sense organs, Immunity, infection and tissue repair [NCMLS 1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43f45dc77a479263bde34305840e4a8Test
https://europepmc.org/articles/PMC2427272Test/