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1دورية أكاديمية
المؤلفون: Ying-Zhang Chen, Sayed H. Hashemi, Susan K. Anderson, Yongzhao Huang, Maria-Ceu Moreira, David R. Lynch, Ian A. Glass, Phillip F. Chance, Craig L. Bennett
المصدر: Neurobiology of Disease, Vol 23, Iss 1, Pp 97-108 (2006)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Hamit Özyürek, N. de Lacy, Brian J. O'Roak, Tessa Rue, Jay Shendure, Evan A. Boyle, Phillip F. Chance, Angels García-Cazorla, Jennifer C. Dempsey, Dana M. Knutzen, Charles Marques Lourenço, I A Glass, Beyhan Tüysüz, Diana R. O’Day, Jonathan Adkins, Dan Doherty, Ruxandra Bachmann-Gagescu, Gisele E. Ishak, Radha Ramadevi A, Melissa A. Parisi, L Lingappa, Loreto Martorell, Abdulrahman Alswaid, G Haliloğlu, Ian G. Phelps, Christine R. Isabella, Meral Topçu, Nicholas T. Gorden
المساهمون: OMÜ, Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları, University of Zurich, Doherty, D
المصدر: Journal of Medical Genetics
JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: 2716 Genetics (clinical), 10039 Institute of Medical Genetics, TMEM67, DNA Mutational Analysis, Biology, Carrier testing, Bioinformatics, Article, Retina, Joubert syndrome, Cohort Studies, Genetic Heterogeneity, 1311 Genetics, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Genetic Association Studies, Genetics (clinical), Genetics & Heredity, Coloboma, Polydactyly, Genetic heterogeneity, Sequence Analysis, DNA, Kidney Diseases, Cystic, Models, Theoretical, medicine.disease, 10124 Institute of Molecular Life Sciences, Hypotonia, Pedigree, 3. Good health, Ciliopathy, 570 Life sciences, biology, medicine.symptom
وصف الملف: text/plain
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المؤلفون: Megan L. Landsverk, Dana M. Knutzen, Richard K. Olney, Elizabeth K. Ruzzo, Patrick F. Chinnery, Karen Barnett, Angela M. B. Collie, Gareth Parry, Sabrina W. Yum, Robert H. Brown, Jonathan Adkins, Heather C Mefford, Karen Buysse, Phillip F. Chance, Evan E. Eichler, David Simpson, Mark C. Hannibal
المصدر: Journal of Medical Genetics, 47, 601-7
Journal of Medical Genetics, 47, 9, pp. 601-7مصطلحات موضوعية: Male, DNA Mutational Analysis, Molecular Sequence Data, Hereditary neuralgic amyotrophy, Biology, Exon, Recurrence, Chromosome Duplication, Gene duplication, Genetics, medicine, Brachial Plexus Neuritis, Humans, Missense mutation, Copy-number variation, Base Pairing, Gene, Genetics (clinical), Base Sequence, Haplotype, Breakpoint, Exons, medicine.disease, Pedigree, Female, Functional Neurogenomics [DCN 2], Septins
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المؤلفون: Carol L. Clericuzio, Meral Gunay-Aygun, M. Gentile, Michael O. Dorschner, Ian G. Phelps, H. Demir, Daniel Bates, Laura S. Finn, M. Al-Mateen, William B. Dobyns, Dan Doherty, Phillip F. Chance, Ian A. Glass, P. Rosenthal, Alain Verloes, H. Weigand, A. Hikida, Dana M. Knutzen, Nicholas T. Gorden, A. J. van Essen, Melissa A. Parisi, William A. Gahl, Hamit Özyürek
المساهمون: Çocuk Sağlığı ve Hastalıkları, OMÜ
المصدر: JOURNAL OF MEDICAL GENETICS, 47(1), 8-21. BMJ PUBLISHING GROUP
مصطلحات موضوعية: Liver Cirrhosis, Male, Pediatrics, TMEM67, CENTROSOMAL PROTEIN, SYNDROME-RELATED DISORDERS, 0302 clinical medicine, Cerebellum, Medicine, Genetics (clinical), BARDET-BIEDL-SYNDROME, Genetics & Heredity, 0303 health sciences, FAMILIAL JUVENILE NEPHRONOPHTHISIS, MOLAR TOOTH SIGN, Syndrome, 3. Good health, Coloboma, RPGRIP1L, OCULO-RENAL SYNDROMES, Congenital hepatic fibrosis, Female, medicine.symptom, medicine.medical_specialty, Ataxia, Adolescent, DIAGNOSTIC-CRITERIA, RECESSIVE MENTAL-RETARDATION, CC2D2A, Joubert syndrome, Article, 03 medical and health sciences, Young Adult, Internal medicine, Intellectual Disability, Genetics, Humans, POLYCYSTIC KIDNEY, MECKEL-GRUBER-SYNDROME, 030304 developmental biology, Meckel-Gruber Syndrome, Adaptor Proteins, Signal Transducing, business.industry, Infant, Membrane Proteins, Proteins, medicine.disease, Joubert syndrome with congenital hepatic fibrosis, Cytoskeletal Proteins, Endocrinology, Mutation, business, 030217 neurology & neurosurgery
وصف الملف: text/plain
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المؤلفون: S. Lovitt, Thomas D. Bird, Karen Barnett, L. R. Miller, Stanley H. Appel, Alexis Brice, Elizabeth K. Ruzzo, Eric LeGuern, Eva Andermann, B. B. Worrall, Phillip F. Chance, H. M. Bedford, Megan L. Landsverk, B. Betz, Jillian G. Buchan, Mark C. Hannibal, Dana M. Knutzen
المصدر: Neurology. 72:1755-1759
مصطلحات موضوعية: Male, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Pedigree chart, Hereditary neuralgic amyotrophy, Biology, medicine.disease_cause, DNA sequencing, GTP Phosphohydrolases, medicine, Brachial Plexus Neuritis, Humans, Missense mutation, Genetic Predisposition to Disease, Genotyping, Genetics, Mutation, Base Sequence, Haplotype, Chromosome Mapping, Articles, medicine.disease, Pedigree, Haplotypes, Microsatellite, Female, Neurology (clinical), Sequence Analysis, Septins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01768cce8b88bcb66faf0bdca5b4bf6b
https://doi.org/10.1212/wnl.0b013e3181a609e3 -
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المؤلفون: Phillip F. Chance, W. Seltzer, Hillary Lipe, Kiri L. Brickell, Michael D. Weiss, Craig L. Bennett, Gregory T. Carter, K. Isaacs, Victoria H. Lawson, Thomas D. Bird, Kevin M. Flanigan
المصدر: Neurology. 71:14-20
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Neurogenetics, Late onset, medicine.disease, Peripheral neuropathy, Genotype, medicine, Neurology (clinical), Young adult, Age of onset, business, Neuroscience, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f02cfae5d70789da271b1b6f233ee60b
https://doi.org/10.1212/01.wnl.0000304048.94023.73 -
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المؤلفون: Puneet Opal, S. D. Batish, Ying Zhang Chen, N. Nagan, Craig L. Bennett, Alexander G. Bassuk, Phillip F. Chance
المصدر: Neurogenetics. 8:45-49
مصطلحات موضوعية: Male, Ataxia, Adolescent, Juvenile amyotrophic lateral sclerosis, Biology, medicine.disease_cause, Cellular and Molecular Neuroscience, Atrophy, Tremor, Genetics, medicine, Humans, Missense mutation, Oculomotor apraxia, Genetics (clinical), Genes, Dominant, Mutation, Cerebellar ataxia, Amyotrophic Lateral Sclerosis, DNA Helicases, Infant, Newborn, Syndrome, medicine.disease, Multifunctional Enzymes, Human genetics, Pedigree, Amino Acid Substitution, Female, medicine.symptom, RNA Helicases
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المؤلفون: Yongzhao Huang, Craig L. Bennett, Ian A. Glass, Sayed H. Hashemi, Phillip F. Chance, David A. Lynch, Ying Zhang Chen, Maria-Ceu Moreira, Susan K. Anderson
المصدر: Neurobiology of Disease, Vol 23, Iss 1, Pp 97-108 (2006)
مصطلحات موضوعية: Adult, Ataxia, Nucleolus, Blotting, Western, Fluorescent Antibody Technique, Biology, medicine.disease_cause, lcsh:RC321-571, Chlorocebus aethiops, medicine, Animals, Humans, Motor Neuron Disease, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Genetics, Fibrillarin, Mutation, Nucleoplasm, Cerebellar ataxia, RNA Helicase A, nervous system, Neurology, COS Cells, Electrophoresis, Polyacrylamide Gel, Female, medicine.symptom, Neuron death, RNA Helicases, HeLa Cells
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المؤلفون: Marcel P. Keller, Phillip F. Chance
المصدر: Brain Pathol
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hereditary neuralgic amyotrophy, Biology, Connexins, Pathology and Forensic Medicine, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Animals, Humans, Point Mutation, SYMPOSIUM: Peripheral Neuropathies, Genetics, Autosome, Genetic heterogeneity, General Neuroscience, Myelin protein zero, Point mutation, Chromosome Mapping, medicine.disease, Chromosome 17 (human), Chromosomes, Human, Pair 1, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, Hereditary motor and sensory neuropathy, Myelin Proteins, Chromosomes, Human, Pair 17
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25092fa91aff36f1486711ad321557c5
https://doi.org/10.1111/j.1750-3639.1999.tb00230.x -
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المؤلفون: Phillip F. Chance
المصدر: NeuroMolecular Medicine. 8:159-173
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Muscle weakness, Motor nerve, Hereditary neuralgic amyotrophy, medicine.disease, Cellular and Molecular Neuroscience, Atrophy, medicine.anatomical_structure, Neurology, medicine, Paralysis, Entrapment Neuropathy, Molecular Medicine, medicine.symptom, business, Brachial plexus, Sensory nerve
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