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المؤلفون: Nisha I. Parikh, Gregory Nah, Heema Patel, Evan Shalen, Nadia Jafar
المصدر: Journal of the American College of Cardiology. 77:1466
مصطلحات موضوعية: Gerontology, business.industry, Medicine, Cardiology and Cardiovascular Medicine, business, Cardiovascular outcomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::685f04c617b6fdb878641ef549113f77Test
https://doi.org/10.1016/s0735-1097Test(21)02824-2 -
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المؤلفون: Ali Al-Memar, Michael A. Simpson, Katherine J. Dick, Michael A. Patton, Johanna A. Reed, Barry A. Chioza, Robert N. Lightowlers, Zofia M.A. Chrzanowska-Lightowlers, Harold E. Cross, Kay Gurtz, Andrew H. Crosby, Christos Proukakis, Heema Patel, Gaurav V. Harlalka, Reza Sharifi
المصدر: The American Journal of Human Genetics. 87:655-660
مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ataxia, Adolescent, Cerebellar Ataxia, Polyadenylation, RNA, Mitochondrial, Molecular Sequence Data, Biology, Mitochondrion, medicine.disease_cause, Mitochondrial Proteins, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Report, RNA polymerase, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Messenger RNA, Mutation, Base Sequence, Cerebellar ataxia, DNA-Directed RNA Polymerases, Pedigree, 3. Good health, Cell biology, Optic Atrophy, Genes, Mitochondrial, chemistry, Child, Preschool, Paraparesis, Spastic, Female, medicine.symptom, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2ccbdf91cc79bed25c4ce042747cecTest
https://doi.org/10.1016/j.ajhg.2010.09.013Test -
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المؤلفون: Thomas T. Warner, Nigel G. Laing, Maria Tsaousidou, Philip A. Wilkinson, Andrew H. Crosby, Philippa J. Lamont, Heema Patel, Michael A. Patton, Ricardo E. Madrid, Fayçal Hentati, Afif Hentati, Michael A. Simpson, Yi Yang, Teepu Siddique, Karim Ouahchi
المصدر: The American Journal of Human Genetics. 82:510-515
مصطلحات موضوعية: Neuroactive steroid, CYP7B1, Molecular Sequence Data, Cytochrome P450 Family 7, Axonal loss, Biology, medicine.disease_cause, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Degenerative disease, Cytochrome P-450 Enzyme System, Report, Genetics, medicine, Homeostasis, Humans, Genetics(clinical), Amino Acid Sequence, Peptide sequence, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Spastic Paraplegia, Hereditary, Chromosome Mapping, Sequence Analysis, DNA, medicine.disease, Pedigree, Cell biology, Cholesterol, Liver, Steroid Hydroxylases, 030217 neurology & neurosurgery, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef6d7f2fcceaf5c92223804f9d9c1d9Test
https://doi.org/10.1016/j.ajhg.2007.10.001Test -
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المؤلفون: Dimitri Robay, Michael A. Simpson, Nigel A. Brown, Heema Patel, Andrew H. Crosby
المصدر: Experimental Cell Research. 312:2764-2777
مصطلحات موضوعية: Spliceosome, Golgi Apparatus, Mitosis, Cell Cycle Proteins, Biology, Synaptic vesicle, Antibodies, Synaptotagmin 1, Mice, Cell Line, Tumor, Animals, Humans, Protein Isoforms, snRNP, Interphase, Cell Nucleus, Centrosome, Neurons, Spastic Paraplegia, Hereditary, Proteins, Cell Biology, Embryo, Mammalian, Ribonucleoproteins, Small Nuclear, Subcellular localization, Immunohistochemistry, Molecular biology, Cytoplasm, Mutation, Synaptic Vesicles, Small nuclear ribonucleoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e514bd90c52c0765cd694430537357Test
https://doi.org/10.1016/j.yexcr.2006.05.003Test -
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المؤلفون: Michael A. Simpson, Heema Patel, Phillip A. Wilkinson, Andrew H. Crosby, Michael A. Patton, Thomas T. Warner, Johanna A. Reed, Arnaud Chatonnet, Dimitri Robay
المصدر: Neurogenetics. 6:79-84
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic Linkage, Hereditary spastic paraplegia, Mutation, Missense, Locus (genetics), Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genetic linkage, Angelman syndrome, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Aged, 030304 developmental biology, 0303 health sciences, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Membrane Proteins, Middle Aged, medicine.disease, United Kingdom, Human genetics, Pedigree, nervous system diseases, Phenotype, Mutation testing, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce2a42bf168fd2224b2e271228ff4323Test
https://doi.org/10.1007/s10048-004-0209-9Test -
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المؤلفون: Heema Patel, P.E. Hart, Andrew H. Crosby, T.T. Warner, Michael A. Patton, Stephen Jeffery, Richard S. Houlston
المصدر: The American Journal of Human Genetics. 69(1):209-215
مصطلحات موضوعية: Adult, Genetic Markers, Male, Adolescent, Hereditary spastic paraplegia, Locus (genetics), Biology, Genetic determinism, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Report, medicine, Genetics, Humans, Genetics(clinical), Age of Onset, Child, Genetics (clinical), 030304 developmental biology, Genes, Dominant, 0303 health sciences, Genetic heterogeneity, Spastic Paraplegia, Hereditary, Chromosomes, Human, Pair 11, Haplotype, Chromosome, Chromosome Mapping, Genetic Variation, Syndrome, Middle Aged, medicine.disease, Amyotrophy, Hand, Pedigree, Haplotypes, Genetic marker, Female, Lod Score, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da60cc415fba43a1d7be514749693ff2Test
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المؤلفون: Richard S. Houlston, Andrew H. Crosby, T. Fenn, M. Nardelli, Aman S. Coonar, Michael A. Patton, Heema Patel
المصدر: British Journal of Dermatology. 144:731-734
مصطلحات موضوعية: Male, Genetics, Heterogeneous group, Genetic Linkage, Genetic heterogeneity, Homozygote, Hyperkeratosis, Chromosome, Dermatology, Biology, medicine.disease, Dyskeratosis, Pedigree, Meleda disease, Palmoplantar keratoderma, Gene mapping, Keratoderma, Palmoplantar, medicine, Humans, Female, Chromosomes, Human, Pair 8
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15de77be8f8bf6a72e9ec59108fe27f8Test
https://doi.org/10.1046/j.1365-2133.2001.04127.xTest -
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المؤلفون: Thomas T. Warner, Andrew H. Crosby, Heema Patel, P.E. Hart, H.E. Phillimore, J.R. Silver, Stephen Jeffery, Michael A. Patton, I. Allen, Nicholas W. Wood
المصدر: American Journal of Medical Genetics. 102:68-72
مصطلحات موضوعية: Genetics, Hereditary spastic paraplegia, Genetic heterogeneity, Locus (genetics), Biology, medicine.disease, Amyotrophy, Genetic determinism, nervous system diseases, Genetic linkage, medicine, Spasticity, medicine.symptom, Paraplegia, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f6b505a59b75614ab4d0acd44e95246cTest
https://doi.org/10.1002/1096-8628Test(20010722)102:1<68::aid-ajmg1411>3.0.co;2-r -
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المؤلفون: R. Collins, Caroline Mackie Ogilvie, Jane Trussler, Roaa Al-Bedaery, Emma Stephenson, Dusko Ilic, Robert Vaughan, Pamela Renwick, Heema Patel, Laureen Jacquet
المصدر: EMBO Molecular Medicine
مصطلحات موضوعية: Male, Population, Cell Culture Techniques, Target population, Histocompatibility Testing, Human leukocyte antigen, Tissue Banks, clinical grade human embryonic stem cell validation and banking, Biology, single cell analyses, Polymerase Chain Reaction, Cell Line, 03 medical and health sciences, 0302 clinical medicine, clinical grade stem cells, HLA Antigens, Pregnancy, Report, Humans, education, Embryonic Stem Cells, Preimplantation Diagnosis, 030304 developmental biology, Whole Genome Amplification, Genetics, 0303 health sciences, education.field_of_study, Haplotype, Clinical grade, human embryonic stem cells, Medium resolution, Huntington Disease, Haplotypes, HLA typing, embryonic structures, Molecular Medicine, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad676c2ff24e2260248bdaeb6956e87bTest
https://pubmed.ncbi.nlm.nih.gov/23161805Test -
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المؤلفون: Anthony Atala, John Davis, Dusko Ilic, Danielle Stevenson, Heema Patel, Peter Braude, Kuldip Sidhu, Peter Hollands, Anujith Kumar, Catherine Verfaillie, Ann M. Hammersla, Mark L. Rohrbaugh, D.W. Fink, S.R. Bauer, P. Au, C.C. Haudenschild, M.H. Lee, B.K. McCright, David Brindley, Chris Mason, A. Zarzeczny, C. Rachul, T. Caulfield, Rosalinda Madonna, M. Shahaduzzaman, A.E. Willing, Leila Abbas, Marcelo N. Rivolta, A. Mackay-Sim, Weibo Zhang, Pamela C. Yelick, Techung Lee, Sushmita Saha, Jennifer Kirkham, David J. Wood, Xuebin B. Yang, Daria Nurzynska, Clotilde Castaldo, Stefania Montagnani, Franca Di Meglio, Liliya M. Yamaleyeva, Sayed-Hadi Mirmalek-Sani, James J. Yoo, Isabel P. Neuringer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4359240c45cb28dff2ca4fd001184329Test
https://doi.org/10.1016/b978-1-84569-984-0.50025-1Test