المؤلفون: Wadih M. Zein, Irini Manoli, Susan Ferry, Jennifer Myles, Oleg A. Shchelochkov, Laryssa A. Huryn, Sho Yano, Charles P. Venditti, Joseph Snow, Carol Van Ryzin, Jennifer L. Sloan, Audrey Thurm, Brian P. Brooks

المصدر: Molecular Genetics and Metabolism. 132:S1-S2

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Hydroxocobalamin, Biochemistry, Cobalamin, chemistry.chemical_compound, Endocrinology, chemistry, Genetics, Medicine, Dietary therapy, business, Lead (electronics), Molecular Biology, Neurocognitive, medicine.drug, Early onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::576dec4f1b57146edf6495414568a8d6Test
https://doi.org/10.1016/s1096-7192Test(21)00089-5

المؤلفون: Ruth V. Spriggs, R. Jeroen Pasterkamp, Lia Panman, Clement Soleilhavoup, Brian P. Brooks, Kieran Patrick, Emma Moles-Garcia, Marco Travaglio, Tony Oosterveen, Pedro Garção, Youri Adolfs, Sarah L. Ferri, Edward S. Brodkin, Ted Abel, Elangovan Boobalan, Dalbir Dhiraj

المساهمون: Travaglio, Marco [0000-0002-4522-322X], Abel, Ted [0000-0003-2423-4592], Pasterkamp, R. Jeroen [0000-0003-1631-6440], Panman, Lia [0000-0002-2353-8247], Apollo - University of Cambridge Repository, Pasterkamp, R Jeroen [0000-0003-1631-6440]

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, Intravital Microscopy, Mutant, General Physics and Astronomy, Striatum, Tissue Culture Techniques, Transcriptome, 0302 clinical medicine, Transcriptional regulation, 14/19, lcsh:Science, Mice, Knockout, Microscopy, Confocal, Multidisciplinary, Dopaminergic, Intracellular Signaling Peptides and Proteins, article, Carbocyanines, Microfluidic Analytical Techniques, Axon Guidance, Female, 64/60, 631/378/2571/2576, 631/378/2571/2578, Microinjections, Science, Nerve Tissue Proteins, Biology, General Biochemistry, Genetics and Molecular Biology, 38/91, 14/1, Midbrain, 03 medical and health sciences, Animals, 631/378/2571/1696, Cell fate and cell lineage, Fluorescent Dyes, Axon and dendritic guidance, Dopaminergic Neurons, General Chemistry, Embryo, Mammalian, Axons, Corpus Striatum, 030104 developmental biology, nervous system, 13/51, Forebrain, Neuronal development, lcsh:Q, Axon guidance, Nerve Net, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf; text/xml; application/zip

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7719617e46edf41275329bf56aaed13Test
https://doi.org/10.1038/s41467-020-16947-6Test

المؤلفون: Laryssa A. Huryn, Robert B. Hufnagel, Delphine Blain, Malena Daich Varela, Wadih M. Zein, Brian P. Brooks

المصدر: Ophthalmology

مصطلحات موضوعية: 0303 health sciences, Coloboma, medicine.medical_specialty, Visual acuity, genetic structures, business.industry, MEDLINE, Glaucoma, medicine.disease, eye diseases, Article, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Cataracts, 030221 ophthalmology & optometry, Medicine, sense organs, medicine.symptom, business, Uveal coloboma, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d2e872be97ecc5eb7e7a814d7b616bTest
https://europepmc.org/articles/PMC7669665Test/

المؤلفون: Craig Martens, Kimmo Virtaneva, Audrey Thurm, Elena Cho, Brian P. Brooks, Sandra Burkett, Daniel Bruno, David H. McDermott, Philip M. Murphy, Clare B. Martin, David M. Lang, Daniel Velez, Colby Chlebowski, Sarah L. Anzick

المصدر: American journal of medical genetics. Part AREFERENCES. 182(11)

مصطلحات موضوعية: Male, medicine.medical_specialty, Craniofacial abnormality, Chromosomal rearrangement, Biology, Polymerase Chain Reaction, Craniofacial Abnormalities, Gene Duplication, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Jacobsen syndrome, Jacobsen Distal 11q Deletion Syndrome, Child, Genetics (clinical), Chromosome Aberrations, Chromothripsis, Whole Genome Sequencing, Chromosomes, Human, Pair 11, Breakpoint, Cytogenetics, Chromosome, Membrane Proteins, medicine.disease, Karyotyping, Carrier Proteins, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e81f77bc2e89cf6968030ad5e1d3dcfTest
https://pubmed.ncbi.nlm.nih.gov/32841469Test

المؤلفون: Rosalie Nolen, Robert B. Hufnagel, Amy Turriff, Andrew J. Griffith, Brian P. Brooks, Kelly A. King, Carmen C. Brewer, Thomas B. Friedman, Talah T Wafa, Wadih M. Zein, Christopher K. Zalewski

المصدر: Ophthalmic Genet

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genotype, Hearing loss, Usher syndrome, Disease, 030105 genetics & heredity, Article, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, medicine, otorhinolaryngologic diseases, Animals, Humans, Vestibular dysfunction, Genetics (clinical), Chromosome Aberrations, business.industry, medicine.disease, Dermatology, Ophthalmology, Phenotype, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Etiology, medicine.symptom, business, Usher Syndromes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8759c9646307ab6e6f5b7d89e4e13b0Test
https://pubmed.ncbi.nlm.nih.gov/32372680Test

المؤلفون: Andrea L. Gropman, Donald W. Hadley, William A. Gahl, Cynthia J. Tifft, Camilo Toro, Elizabeth A. Burke, Lynne A. Wolfe, Tanya J. Lehky, Brian P. Brooks, Kyle E. Reichard, David H. Adams, John J. DiGiovanna

المصدر: Am J Med Genet A

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Genetic heterogeneity, Waardenburg syndrome, business.industry, Hearing loss, SOX10, Disease, medicine.disease, Phenotype, Article, Frameshift mutation, embryonic structures, Genetics, medicine, Sensorineural hearing loss, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80bb60cd1aa240c79f1e662c4b221eb5Test
https://europepmc.org/articles/PMC7167353Test/

المؤلفون: Laryssa A. Huryn, Amy Turriff, Catherine A Cukras, Brian P. Brooks

المصدر: J AAPOS

مصطلحات موضوعية: medicine.medical_specialty, Ophthalmology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Humans, Medical physics, business, Child, Multi gene, Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60c845122bb5ba8241baa7ed9012cd3aTest
https://europepmc.org/articles/PMC8409257Test/

المؤلفون: Béatrice Bocquet, Robert B. Hufnagel, Katarina Stingl, Roberto Giorda, Berthold Streubel, Alexandre Matet, Isabelle Meunier, Loreto Martorell Sampol, Jaume Català-Mora, Nicole Weisschuh, Bernd Wissinger, Günther Rudolph, Brian P. Brooks, Kari Branham, Ulrich Kellner, Dror Sharon, Marc Sturm, Susanne Kohl, Sofia Kitsiou-Tzeli, Balázs Varsányi, Samuel G. Jacobson, John R. Heckenlively, Carmen Ayuso, Isabelle Audo, Britta Baumann

المصدر: HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Hum Mutat

مصطلحات موضوعية: Achromatopsia, Genotype, RNA Splicing, In silico, Cyclic Nucleotide-Gated Cation Channels, Color Vision Defects, Locus (genetics), pseudoexon, Biology, Compound heterozygosity, Article, DNA sequencing, 03 medical and health sciences, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, CNGB3, Gene, Alleles, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, 030305 genetics & heredity, Computational Biology, Genetic Variation, Exons, splicing defect, deep intronic variant, medicine.disease, Introns, Phenotype, Amino Acid Substitution, Mutation, RNA splicing, achromatopsia, Pseudogenes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520355a65ce7b723c91c2f178042c4aeTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16719Test

المؤلفون: Charles P. Venditti, Kevin Bishop, Madeline L Arnold, Jennifer L. Sloan, Niraj S. Trivedi, Nathan P. Achilly, Raman Sood, MaryPat Jones, Abdel G. Elkahloun, Trevor Blake, Victoria Hoffmann, Ursula Harper, Jerrel L Catlett, Stacie M. Anderson, Milton A. English, Brian P. Brooks

المصدر: Hum Mol Genet

مصطلحات موضوعية: Methylmalonic acidemia, Cobalamin, Retina, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Genetics, medicine, Morphogenesis, Animals, Humans, Methionine synthase, Vitamin B12, Molecular Biology, Genetics (clinical), Zebrafish, 030304 developmental biology, 0303 health sciences, biology, nutritional and metabolic diseases, Optic Nerve, Vitamin B 12 Deficiency, General Medicine, Zebrafish Proteins, Hydroxocobalamin, medicine.disease, MMACHC, Cell biology, Vitamin B 12, chemistry, Methylcobalamin, Mutation, biology.protein, Homocystinuria, General Article, CBLC, Carrier Proteins, Oxidoreductases, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::078b9898da862cab32e21329fdd17171Test
https://pubmed.ncbi.nlm.nih.gov/32186706Test

المؤلفون: Robert B. Hufnagel, Temesgen D. Fufa, Brian P. Brooks, David M. McGaughey, John M Bryan, Kapil Bharti

المصدر: Human Molecular Genetics. 27:3325-3339

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Genomics, Retinal Pigment Epithelium, Computational biology, Biology, Eye, computer.software_genre, Retina, Cornea, Correlation, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Genetics, medicine, Animals, Humans, Cluster analysis, Molecular Biology, Gene, Genetics (clinical), Retinal pigment epithelium, Choroid, High-Throughput Nucleotide Sequencing, General Medicine, Expression (mathematics), eye diseases, Workflow, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Organ Specificity, Gene Ontology Term Enrichment, Human eye, General Article, Data mining, sense organs, computer, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::495dd4e39774bf3e363d0b116ab2bf06Test
https://doi.org/10.1093/hmg/ddy239Test