-
1Academic Journal
المؤلفون: Marina W. Alcantar, Jeff Hetrick, Jacqueline Ramsay, Amanda L. Kelley
المصدر: Frontiers in Marine Science, Vol 11 (2024)
مصطلحات موضوعية: ocean acidification, vaterite, biomineralogy, Siliqua patula, variability, larval response, Science, General. Including nature conservation, geographical distribution, QH1-199.5
وصف الملف: electronic resource
-
2Academic Journal
المؤلفون: Wiley Evans, Jeremy T Mathis, Jacqueline Ramsay, Jeff Hetrick
المصدر: PLoS ONE, Vol 10, Iss 7, p e0130384 (2015)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
-
3Image
المؤلفون: Marina W. Alcantar, Jeff Hetrick, Jacqueline Ramsay, Amanda L. Kelley
مصطلحات موضوعية: Oceanography, Marine Biology, Marine Geoscience, Biological Oceanography, Chemical Oceanography, Physical Oceanography, Marine Engineering, ocean acidification, vaterite, biomineralogy, Siliqua patula, variability, larval response, amorphous calcium carbonate (ACC)
-
4
المؤلفون: Marina W. Alcantar, Jeff Hetrick, Jacqueline Ramsay, Amanda L. Kelley
مصطلحات موضوعية: Oceanography, Marine Biology, Marine Geoscience, Biological Oceanography, Chemical Oceanography, Physical Oceanography, Marine Engineering, ocean acidification, vaterite, biomineralogy, Siliqua patula, variability, larval response, amorphous calcium carbonate (ACC)
-
5Academic Journal
المؤلفون: David R. Fitzpatrick, Jacqueline Ramsay, Niolette I. Mcgill, Mary Shade, Andrew D. Carothers, Nicholas D. Hastie
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.322.3594; http://hmg.oxfordjournals.org/content/11/26/3249.full.pdf
-
6
المؤلفون: David R. FitzPatrick, Kim Debacker, Dominique Smeets, R. Frank Kooy, Birgitta Winnepenninckx, Arie P. T. Smits, Jacqueline Ramsay
المصدر: American Journal of Human Genetics, 80, 221-31
Winnepenninckx, B, Debacker, K, Ramsay, J, Smeets, D, Smits, A, FitzPatrick, D R & Kooy, R F 2007, ' CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1 ', American Journal of Human Genetics, vol. 80, no. 2, pp. 221-31 . https://doi.org/10.1086/510800
American Journal of Human Genetics, 80, 2, pp. 221-31
The American journal of human geneticsمصطلحات موضوعية: Adult, Male, Untranslated region, Heterozygote, Ataxia, Adolescent, Molecular Sequence Data, Nerve Tissue Proteins, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Gene expression, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Gene, Genetics (clinical), Likelihood Functions, Chromosomes, Human, Pair 12, Base Sequence, Chromosome Fragile Sites, Chromosomal fragile site, DNA Methylation, Molecular biology, Pedigree, Protein Structure, Tertiary, Genetic defects of metabolism [UMCN 5.1], Chromosome Fragile Site, Child, Preschool, DNA methylation, Female, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
وصف الملف: application/pdf; pdf
-
7
المؤلفون: Amanda L. Collins, E.D. Cabanas, F. Lucy Raymond, Charles Shaw-Smith, Howard Martin, David R. FitzPatrick, Lesley Pindar, Michael Tettenborn, John C K Barber, James J. Cox, Erik A. Sistermans, Eddy Maher, Dian Donnai, Kate Walker, Bert B.A. de Vries, Lionel Willatt, Josep Parnau, Jacqueline Ramsay, Dorothy Trump
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: American Journal of Human Genetics, 77, 1, pp. 154-60
Willatt, L, Cox, J, Barber, J, Cabanas, E D, Collins, A, Donnai, D, FitzPatrick, D R, Maher, E, Martin, H, Parnau, J, Pindar, L, Ramsay, J, Shaw-Smith, C, Sistermans, E A, Tettenborn, M, Trump, D, De Vries, B B A, Walker, K & Raymond, F L 2005, ' 3q29 microdeletion syndrome : Clinical and molecular characterization of a new syndrome ', American journal of human genetics, vol. 77, no. 1, pp. 154-160 . https://doi.org/10.1086/431653
American journal of human genetics, 77(1), 154-160. Cell Press
American Journal of Human Genetics, 77, 154-60مصطلحات موضوعية: Male, Monosomy, Microcephaly, Ligamentous laxity, 3q29 microdeletion syndrome, Non-allelic homologous recombination, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Intellectual Disability, Report, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), Short philtrum, Child, Genetics (clinical), 030304 developmental biology, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], 0303 health sciences, Chromosome Mapping, Infant, Syndrome, medicine.disease, Phenotype, Child, Preschool, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery
-
8
المؤلفون: David R. FitzPatrick, E Grace, Lynn M Myles, Robert A. Minns, Sixto García-Miñaur, Jacqueline Ramsay
المصدر: American Journal of Medical Genetics Part A. :402-410
مصطلحات موضوعية: Genetics, Proband, Candidate gene, Gene mapping, Breakpoint, Chromosome, Karyotype, Craniofacial, Biology, Phenotype, Genetics (clinical)
-
9
المؤلفون: Jeremy T. Mathis, Jacqueline Ramsay, Jeff Hetrick, Wiley Evans
المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 7, p e0130384 (2015)مصطلحات موضوعية: Science, Aquaculture, engineering.material, Calcium Carbonate, chemistry.chemical_compound, Water column, Seawater, Shellfish, Multidisciplinary, business.industry, Aragonite, Ocean acidification, Carbon Dioxide, Hydrogen-Ion Concentration, Hatchery, Fishery, Sea surface temperature, chemistry, Carbon dioxide, engineering, Medicine, Environmental science, business, Alaska, Research Article
-
10
المؤلفون: Nicholas D. Hastie, David R. FitzPatrick, Andrew D. Carothers, Jacqueline Ramsay, Mary Shade, Niolette I. McGill
المصدر: Human Molecular Genetics. 11:3249-3256
مصطلحات موضوعية: Aneuploidy, Trisomy, Biology, Transcriptome, Genetics, medicine, Humans, Molecular Biology, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Autosome, Chromosomes, Human, Pair 13, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, Chromosome, Karyotype, General Medicine, medicine.disease, Molecular biology, Up-Regulation, Gene expression profiling, Gene Expression Regulation, Down Syndrome, Patau's syndrome
-
11
المؤلفون: Preeti Bakrania, Alison Salt, Nicola K. Ragge, Sibel Aylin Ugur Iseri, Jacqueline Ramsay, David O. Robinson, Dave J. Bunyan, Wayne W.K. Lam, Alexander W. Wyatt
المصدر: American journal of medical genetics. Part A. (5)
مصطلحات موضوعية: Male, DNA Mutational Analysis, Molecular Sequence Data, Gene Dosage, Eye, Gene dosage, Pregnancy, Genetics, Humans, Base sequence, Hedgehog Proteins, Eye Abnormalities, Sonic hedgehog, Genetics (clinical), biology, Base Sequence, Infant, Newborn, Infant, Infant newborn, Eye abnormality, Mutation (genetic algorithm), Mutation, biology.protein, Female
-
12
المؤلفون: M.-P. Vazquez, Nicholas D. Hastie, Paul Q. Thomas, David R. FitzPatrick, Nicky Kilpatrick, Michel Vekemans, Negar Jamshidi, Sophie Thomas, Heather C. Etchevers, Carmen Ayuso, I. Karen Temple, Abdelkader Essafi, Arnaud Picard, Muriel Holder-Espinasse, Hugues Roest Crollius, Anna Pelet, Melissa Lees, Simon Heaney, Malcolm E. Fisher, Dirk-Jan Kleinjan, Arnold Munnich, Jeanne Amiel, Sabina Benko, Christelle Golzio, Véronique Abadie, David McBride, Peter G. Farlie, Jacqueline Ramsay, Paul Perry, J. Fantes, Stanislas Lyonnet, Christopher T. Gordon
المساهمون: Duponchelle, Martine, Régulation de l'expression génétique (REG), Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2009, 41(3), pp.359-364مصطلحات موضوعية: Untranslated region, Molecular Sequence Data, Mice, Transgenic, Locus (genetics), SOX9, Biology, Conserved sequence, Mice, 03 medical and health sciences, 0302 clinical medicine, Untranslated Regions, Genetics, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Animals, Humans, Family, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Regulatory Elements, Transcriptional, Enhancer, Conserved Sequence, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM], 0303 health sciences, Polymorphism, Genetic, [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Base Sequence, Pierre Robin Syndrome, Point mutation, Breakpoint, Chromosome Mapping, Gene Expression Regulation, Developmental, SOX9 Transcription Factor, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Pedigree, Chromatin, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], 030217 neurology & neurosurgery, Chromosomes, Human, Pair 17
-
13
المؤلفون: J. Fantes, Graeme C.M. Black, Jill Clayton-Smith, Judith A. Goodship, H. Stewart, Margo L. Whiteford, Philippe Gautier, Dian Donnai, Louise Harewood, Veronica van Heyningen, Miranda Splitt, E. Boland, Susan Holloway, Eddy Maher, Jacqueline Ramsay, David R. FitzPatrick, F H Sharkey
المصدر: Fantes, J A, Boland, E, Ramsay, J, Donnai, D, Splitt, M, Goodship, J A, Stewart, H, Whiteford, M, Gautier, P, Harewood, L, Holloway, S, Sharkey, F, Maher, E, van Heyningen, V, Clayton-Smith, J, Fitzpatrick, D R & Black, G C M 2008, ' FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality ', American Journal of Human Genetics, vol. 82, no. 4, pp. 916-26 . https://doi.org/10.1016/j.ajhg.2008.02.007
Europe PubMed Centralمصطلحات موضوعية: Chromosomal translocation, Context (language use), Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, medicine, Genetics, Humans, Genetics(clinical), Phenotypic abnormality, Genetics (clinical), In Situ Hybridization, Fluorescence, 030304 developmental biology, Sequence Deletion, Chromosome Aberrations, 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, Breakpoint, Genetic Diseases, Inborn, Chromosome, Correction, Chromosome Mapping, Gene rearrangement, Prognosis, 3. Good health, Phenotype, Case-Control Studies, 030217 neurology & neurosurgery, Fluorescence in situ hybridization
وصف الملف: application/pdf
-
14
المؤلفون: Sixto, Garcia-Miñaur, Jacqueline, Ramsay, Elizabeth, Grace, Robert A, Minns, Lynn M, Myles, David R, FitzPatrick
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: Male, Child, Preschool, Intellectual Disability, Karyotyping, Chromosomes, Human, Pair 5, Humans, Infant, Abnormalities, Multiple, Chromosome Deletion, Child, In Situ Hybridization, Fluorescence, Chromosome Banding, Follow-Up Studies
-
15
المؤلفون: Eddy Maher, Jacqueline Ramsay, Konstantina Plastira, Judith A. Fantes, Roxani Angelopoulou
المصدر: Annales de G�n�tique.
مصطلحات موضوعية: Adult, Chromosomes, Artificial, Bacterial, Chromosomal translocation, Biology, Preimplantation genetic diagnosis, Translocation, Genetic, Polar body, Pregnancy, medicine, Genetics, Humans, Cloning, Molecular, Interphase, Genetics (clinical), In Situ Hybridization, Fluorescence, Preimplantation Diagnosis, Bacterial artificial chromosome, Chromosomes, Human, Pair 12, medicine.diagnostic_test, Breakpoint, Chromosome, Chromosome Breakage, Karyotype, General Medicine, Molecular biology, Female, Chromosomes, Human, Pair 4, Chromosome 22, Fluorescence in situ hybridization
-
16
المؤلفون: Kishan Sokhi, Jacqueline Ramsay, Tanya Bardakjian, Adele Schneider, Nursel Elcioglu, Raoul C.M. Hennekam, C. Nur Semerci, Ferda Ozkinay, Joe Rainger, David Sexton, Andrea Superti Furga, Anita Saponari, Lina Ramos, Ellen van Beusekom, Malcolm E. Fisher, Gabriele Gillessen-Kaesbach, Anita Wischmeijer, Ian J. Jackson, Sérgio B. Sousa, Hans van Bokhoven, Rainer Koenig, Lihadh Al-Gazali, Paul Perry, Peter Branney, Louise S. Bicknell, Harris Morrison, Livia Garavelli, Dagmar Wieczorek, André Mégarbané, Rosanna Pallotta, Han G. Brunner, Lisa McKie, Saemah Nuzhat Zafar, Philippe Gautier, Ayesha Khan, David R. FitzPatrick
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, Ege Üniversitesi, Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Megarbane, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sergio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R., Faculteit der Geneeskunde
المصدر: Rainger, J, van Beusekom, E, Ramsay, J K, McKie, L, Al-Gazali, L, Pallotta, R, Saponari, A, Branney, P, Fisher, M, Morrison, H, Bicknell, L, Gautier, P, Perry, P, Sokhi, K, Sexton, D, Bardakjian, T M, Schneider, A S, Elcioglu, N, Ozkinay, F, Koenig, R, Mégarbané, A, Semerci, C N, Khan, A, Zafar, S, Hennekam, R, Sousa, S B, Ramos, L, Garavelli, L, Furga, A S, Wischmeijer, A, Jackson, I J, Gillessen-Kaesbach, G, Brunner, H G, Wieczorek, D, van Bokhoven, H & Fitzpatrick, D R 2011, ' Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice ', PLoS Genetics, vol. 7, no. 7, e1002114 . https://doi.org/10.1371/journal.pgen.1002114
PLoS Genetics
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Plos Genetics, 7, e1002114-e1002114
PLoS genetics, 7(7). Public Library of Science
PLOS Genetics, 7(7):e1002114. Public Library of Science
Plos Genetics, 7, 7, pp. e1002114-e1002114
Plos Genetics, vol. 7, no. 7, pp. e1002114مصطلحات موضوعية: ANOMALIES, DNA Mutational Analysis, PROTEIN, anophthalmia, gene targeting, Bone Morphogenetic Protein 1, hindlimb, Mice, Xenopus laevis, genetic linkage, BINDING, genetics, Waardenburg's Syndrome, Waardenburg Syndrome, clinical article, C57BL mouse, adult, Mus, microsatellite marker, DEFECTS, gene expression regulation, Disease gene identification, BMP1 protein, human, Pedigree, Medicine, down regulation, mutational analysis, drug antagonism, medicine.medical_specialty, SMOC1 protein, human, embryo, Bone morphogenetic protein, animal tissue, loss of function mutation, Smoc1 gene, Genetics, Humans, human, Biology, Molecular Biology, Waardenburg syndrome, mouse, Ecology, Evolution, Behavior and Systematics, MUTATIONS, animal model, Correction, SMOC-1 protein, mouse, school child, medicine.disease, Mice, Inbred C57BL, Human Reproduction [NCEBP 12], gene function, Endocrinology, decapentaplegic protein, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Mutation, Cancer Research, frameshift mutation, Medizin, nonsense mutation, Gene Expression, mouse mutant, Eye, Bmp1 protein, mouse, Autosomal Recessive, bone morphogenetic protein, Missense mutation, animal, Osteonectin, SPECIFICATION, Genetics (clinical), RECESSIVE ANOPHTHALMIA, limb, cleft palate, Mice, Knockout, child, Coloboma, ABNORMALITIES, messenger RNA, article, pedigree, female, Mammalia, Models, Animal, Drosophila, Research Article, gene locus, lcsh:QH426-470, Nonsense mutation, procollagen C proteinase, male, ddc:570, Internal medicine, medicine, Animalia, Animals, gene, SMOC 1 protein, mouse, gene identification, growth, development and aging, Clinical Genetics, Phenocopy, nonhuman, Anophthalmia, missense mutation, syndactyly, Anophthalmos, nucleotide sequence, Human Genetics, Extremities, infant, lcsh:Genetics, XENOPUS, CELL-DEATH, adolescent, Genetics of Disease, Syndactyly, homozygosity, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], metabolism, Animal Genetics
وصف الملف: application/pdf
Full Text Finder