المؤلفون: J. Carter, H. Brittain, D. Morrogh, N. Lench, J. J. Waters

المصدر: Case Reports in Genetics, Vol 2017 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

URL الوصول: https://doaj.org/article/9027efb0947f4084a5fe885c473c545c

المؤلفون: D. Kasperavičiūtė, C.B. Catarino, K. Chinthapalli, L.M.S. Clayton, M. Thom, L. Martinian, H. Cohen, S. Adalat, D. Bockenhauer, S.A. Pope, N. Lench, M. Koltzenburg, J.S. Duncan, P. Hammond, R.C.M. Hennekam, J.M. Land, S.M. Sisodiya

المصدر: PLoS One (19326203) vol.6 (2011) nr.8

Relation: http://hdl.handle.net/11245/1.364137

الاتاحة: http://hdl.handle.net/11245/1.364137

المؤلفون: S. A. Kindelan, A. H. Brook, L. Gangemi, N. Lench, F. S. L. Wong, J. Fearne, Z. Jackson, G. Foster, B. M. J. Stringer, J Dent Res

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://jdr.sagepub.com/content/79/12/1978.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.4845; http://jdr.sagepub.com/content/79/12/1978.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.327.4845
http://jdr.sagepub.com/content/79/12/1978.full.pdf

المؤلفون: H. Brittain, Deborah Morrogh, Jonathan J Waters, Jennifer Carter, N. Lench

المصدر: Case Reports in Genetics, Vol 2017 (2017)
Case Reports in Genetics

مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, Copy number loss, Microarray, lcsh:QH426-470, Ring chromosome, Fish analysis, Case Report, General Medicine, Biology, Integrated approach, Molecular biology, 03 medical and health sciences, lcsh:Genetics, 030104 developmental biology, Chromosome 4, Microarray platform

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af7c98fe014f7056d39753c4ced06531
https://doaj.org/article/9027efb0947f4084a5fe885c473c545c

المؤلفون: M. Ramsay, B.J. Wainwright, M. Farrall, X. Estivill, H. Sutherland, M.-F. Ho, R. Davies, S. Halford, F. Tata, C. Wicking, N. Lench, I. Bauer, C. Ferec, P. Farndon, H. Kruyer, P. Stanier, R. Williamson, P.J. Scambler

المصدر: University of St Andrews CRIS

مصطلحات موضوعية: Gel electrophoresis, Genetics, Chromosome 7 (human), Electrophoresis, Polymorphism, Genetic, Cystic Fibrosis, Restriction Mapping, DNA, Recombinant, Locus (genetics), Biology, Cosmids, DNA sequencing, Linkage Disequilibrium, Blotting, Southern, Genetic marker, Mutation, Cosmid, Humans, Restriction fragment length polymorphism, Cloning, Molecular, Gene, Chromosomes, Human, Pair 7, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6a73dbfc3ca9dfbead02fa98614420
https://doi.org/10.1016/0888-7543(90)90446-2

المؤلفون: J. Kari, D. Bockenhauer, E. Brennan, L. Rees, R. Trompeter, K. Tullus, W. Van't Hoff, A. Waters, E. Ashton, N. Lench, N. Sebire, S. Marks, G. Montini

المساهمون: J. Kari, G. Montini, D. Bockenhauer, E. Brennan, L. Ree, R. Trompeter, K. Tullu, W. Van't Hoff, A. Water, E. Ashton, N. Lench, N. Sebire, S. Marks

مصطلحات موضوعية: congenital nephrotic syndrome, infantile nephrotic syndrome, histopathology, genetic, outcome, Settore MED/38 - Pediatria Generale e Specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/24902943; info:eu-repo/semantics/altIdentifier/wos/WOS:000342457700016; volume:29; issue:11; firstpage:2173; lastpage:2180; numberofpages:8; journal:PEDIATRIC NEPHROLOGY; http://hdl.handle.net/2434/339042; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84939876687

الاتاحة: http://hdl.handle.net/2434/339042
https://doi.org/10.1007/s00467-014-2856-x

المؤلفون: A. Alfirevic, S.E. Antonarakis, A. Bhardwaj, P. Borry, C. Børsting, M.V. Busi, V.H.W. Dissanayake, R. Festenstein, C.L. Gaff, D.F. Gomez-Casati, M. Grisolía, P. Gupta, A. Haworth, B. Kerr, B.M. Knoppers, B. Korf, D. Kumar, N. Lench, A. Lucassen, I. Macciocca, E. Maher, T.A. Manolio, D. McHale, N. Morling, A. Mutreja, M. Penny, M. Pirmohamed, N.K. Rajput, Y.-H. Rogers, H. Savage, R. Saxena, M. Shabani, V.K. Sharma, V. Singh, N. Sirisena, D. Sumathipala, I. van Langen, K. Wettasinghe, J. Whitworth, A.L. Wise, C. Zhang

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::95d8d1a5abab2d5c71472918a0a59d28
https://doi.org/10.1016/b978-0-12-420196-5.01002-9

المؤلفون: H. Savage, A. Haworth, N. Lench

مصطلحات موضوعية: Feed back, medicine.diagnostic_test, business.industry, medicine, Genetic data, Social care, Genomics, Routine practice, business, Bioinformatics, Genetic testing, Test (assessment), Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9ba8789306107596f83615b4481756f4
https://doi.org/10.1016/b978-0-12-420196-5.00004-6

المؤلفون: Z. Jackson, Janice M. Fearne, Alan Brook, Ferranti S. L. Wong, L. Gangemi, G. Foster, B.M.J. Stringer, S.A. Kindelan, N. Lench

المصدر: Journal of Dental Research. 79:1978-1982

مصطلحات موضوعية: Male, 0301 basic medicine, X Chromosome, Amelogenesis Imperfecta, Genetic Linkage, Biology, medicine.disease_cause, Polymerase Chain Reaction, Frameshift mutation, Cytosine, 03 medical and health sciences, Exon, 0302 clinical medicine, Dental Enamel Proteins, stomatognathic system, medicine, Humans, Amelogenesis imperfecta, Cloning, Molecular, Frameshift Mutation, General Dentistry, Gene, Sex Chromosome Aberrations, Polymerase, Sequence Deletion, Genetics, Mutation, Amelogenin, Sequence Analysis, DNA, 030206 dentistry, medicine.disease, Molecular biology, Pedigree, genomic DNA, 030104 developmental biology, Amino Acid Substitution, biology.protein, Female, Thymine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1d3fa034f214c18102b7a29615bcbaf
https://doi.org/10.1177/00220345000790120901

المؤلفون: Angela N Barrett, F McKay, S Fielding, L Jenkins, N Lench, LS Chitty

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity

Relation: http://hdl.handle.net/10779/DRO/DU:23590251.v1

الاتاحة: http://hdl.handle.net/10779/DRO/DU:23590251.v1
https://figshare.com/articles/journal_contribution/Non-invasive_prenatal_diagnosis_for_skeletal_dysplasias_-_Implementation_into_clinical_practice/23590251

المؤلفون: N Lench, G B Winter, I Holroyd

المصدر: British Dental Journal. 178:465-468

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Amelogenesis Imperfecta, Dentistry, macromolecular substances, Biology, Diseases in Twins, Maxilla, Twins, Dizygotic, medicine, Humans, Amelogenesis imperfecta, Child, General Dentistry, Alleles, Genetics, Polymorphism, Genetic, Triplets, business.industry, musculoskeletal, neural, and ocular physiology, Sequence Analysis, DNA, Twins, Monozygotic, medicine.disease, Molar, Pedigree, nervous system, Female, business, Malocclusion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55a2c98d81369e6f6dfb95a6966e065e
https://doi.org/10.1038/sj.bdj.4808804

المؤلفون: Fiona McKay, L Jenkins, M Bitner Glindzicz, N Lench

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity

Relation: http://hdl.handle.net/10779/DRO/DU:23590239.v1; https://figshare.com/articles/journal_contribution/Development_of_a_molecular_genetic_diagnostic_service_for_Waardenburg_syndrome_Type_1_and_Type_3/23590239

الاتاحة: http://hdl.handle.net/10779/DRO/DU:23590239.v1
https://figshare.com/articles/journal_contribution/Development_of_a_molecular_genetic_diagnostic_service_for_Waardenburg_syndrome_Type_1_and_Type_3/23590239

المؤلفون: GJ Roberts, E Franco, N Lench, S Hodgson

المصدر: Oral diseases. 1(1)

مصطلحات موضوعية: Proband, Male, congenital, hereditary, and neonatal diseases and abnormalities, X Chromosome, Adolescent, Molecular Sequence Data, Chromosome Disorders, Biology, Contiguous gene syndrome, Microphthalmia, Polymerase Chain Reaction, Cataract, stomatognathic system, Dental Enamel Proteins, medicine, Humans, Microphthalmos, Abnormalities, Multiple, General Dentistry, X chromosome, Nance–Horan syndrome, DNA Primers, Genetics, Chromosome Aberrations, Dental Enamel Hypoplasia, Amelogenin, Base Sequence, Tooth Abnormalities, Chromosome Mapping, Syndrome, medicine.disease, Hypoplasia, stomatognathic diseases, Blotting, Southern, Otorhinolaryngology, Chromosome Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a0e3bbbb7567d9545945f8169ac454b
https://pubmed.ncbi.nlm.nih.gov/7553384

المؤلفون: N. Lench, Xavier Estivill, Michèle Ramsay, Miguel Chillón, Myron Schwartz, Teresa Casals, V. Nunes

المساهمون: Universitat de Barcelona

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: Genetics, Cystic Fibrosis, Genetic Linkage, Polimorfisme genètic, Locus (genetics), Fibrosi quística, DNA Restriction Enzymes, Biology, medicine.disease, Genetic polymorphisms, Cystic fibrosis, Molecular biology, Gene mapping, Genetic linkage, medicine, Humans, Restriction fragment length polymorphism, Molecular probe, Deoxyribonucleases, Type II Site-Specific, Allele frequency, Chromosomes, Human, Pair 7, Polymorphism, Restriction Fragment Length

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a28ff9b0ead1c04eb4c5a6c061bc9e27
https://pubmed.ncbi.nlm.nih.gov/1969627

المؤلفون: Xavier Estivill, Michèle Ramsay, Miguel Chillón, N. Lench, V. Nunes

المساهمون: Universitat de Barcelona

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname

مصطلحات موضوعية: Cystic Fibrosis, Genetic Linkage, Molecular Sequence Data, Biology, Cystic fibrosis, Polymerase Chain Reaction, Genètica molecular, law.invention, law, Genetic linkage, Genetics, medicine, Humans, Base sequence, Molecular genetics, Deoxyribonucleases, Type II Site-Specific, Polymerase chain reaction, Base Sequence, Fibrosi quística, medicine.disease, Molecular biology, Oligodeoxyribonucleotides, Mutation, Restriction fragment length polymorphism, Chromosomes, Human, Pair 7, Polymorphism, Restriction Fragment Length

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc6e146bec34d704161d9d4c47a73ea
http://hdl.handle.net/2445/42445

المؤلفون: M. Schmid, E.C. Douglass, M.A. Pierotti, D.J. Shaw, H. Auer, J.G. McLeod, M. Farrall, F.J. Ratty, B. Mayr, W. Schleger, R. Giardini, L.J. Old, J. Sümegi, E. Etcubanas, M.B. Zwi, T. Haaf, R. Ionasescu, B.L. Webber, M.M. Power, B.J. Morris, A.M. Bowcock, R. Williamson, M. Valentine, H.H. Wolff, V. Ionasescu, L.R. Griffiths, Z. Wirschubsky, R.E. Magenis, D. Delia, C. Searby, G. Klein, G. Della Porta, G. Sozzi, M. Camargo, T. Mohandas, B. Wainwright, S.J. Barton, D.H. Wurster-Hill, H.R. Beresford, L.L. Cavalli-Sforza, M.G. Bertoglio, J.M. Hebert, W. Schloot, E.M. Kuhn, E. Wijsman, M. Weinberg, G.B. Peters, T. Jahnsen, S.J. O’Brien, A. Agresti, M.G. Borrello, P.J. Houghton, J.E. Wright, J.D. Brook, S. Bartnitzke, J. Haubrich, R. Chilla, U. Löhrs, G.A. Nicholson, J. Szpirer, K. Davies, Y. Song, J.E. Disney, C.D. Boyd, O.G. Ward, E. Therman, A.M. Christiano, M. Lambrou, H. Kruyer, S. Ingvarsson, W.J. Rettig, W.G. Nash, G. Levan, E. Schwinger, N. Lench, R. Johannisson, F. Rilke, G.E. Sarto, T. Burns, D.A. Ross, J. Bullerdiek, H. Neitzel, D. Parham, L.B. MacCormac, J. Cervenka, A.A. Green, P. Scambler

المصدر: Cytogenetic and Genome Research. 45:I-IV

مصطلحات موضوعية: Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::94df0c4b621d46069e1f7656d44ca3ef
https://doi.org/10.1159/000132442

المؤلفون: N. Lench, Peter J. Scambler

المصدر: Nucleic acids research. 15(19)

مصطلحات موضوعية: Genetics, Genetic Markers, Polymorphism, Genetic, biology, DNA Restriction Enzymes, Deoxyribonuclease HindIII, Cosmids, Molecular biology, Restriction fragment, Genetic marker, biology.protein, Cosmid, Humans, Restriction fragment length polymorphism, Chromosomes, Human, Pair 7, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b20ac63d1111f2defc32c9cb133b19
https://pubmed.ncbi.nlm.nih.gov/2890139

المؤلفون: G M, Lathrop, M, Farrall, P, O'Connell, B, Wainwright, M, Leppert, Y, Nakamura, N, Lench, H, Kruyer, M, Dean, M, Park

المصدر: American journal of human genetics. 42(1)

مصطلحات موضوعية: Genetic Markers, Male, Cystic Fibrosis, Genetic Linkage, Chromosome Mapping, Humans, Female, Original Articles, Chromosomes, Human, Pair 7, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b51c3aba9b09877eff022b1a7919a4d2
https://pubmed.ncbi.nlm.nih.gov/2892400

المؤلفون: Robert Williamson, N. Lench, Frank Grosveld, H. Vissing, G. Moore, Ellen Solomon, N. Shennan

مصطلحات موضوعية: Genetics, biology, EcoRI, Chromosome, Alu element, Chromosome Mapping, DNA Restriction Enzymes, Hybrid Cells, Cosmids, Restriction fragment, Cell Line, Chromosome 17 (human), Mice, Restriction map, biology.protein, Cosmid, Animals, Humans, Chromosome 22, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3650618f5b3d2a9d7ffc02a21e23fa63
https://europepmc.org/articles/PMC340554/

المؤلفون: R. Williamson, G. Bell, J. Bell, G. Bates, K.A. Davies, X. Estivill, M. Farrall, H. Kruyer, H.Y. Law, N. Lench, P. Scambler, P. Stanier, B. Wainwright, E. Watson, C. Worrall

المصدر: Scopus-Elsevier
Europe PubMed Central

مصطلحات موضوعية: Genetic Markers, medicine.medical_specialty, Pathology, Cystic Fibrosis, Genetic Linkage, business.industry, Chromosome Mapping, medicine.disease, Biochemistry, Cystic fibrosis, Pregnancy, Karyotyping, Prenatal Diagnosis, Molecular genetics, Genetics, medicine, Humans, Female, business, Molecular Biology, Chromosomes, Human, Pair 7

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef10f2b707b17e2b48782f131939ec2
http://www.scopus.com/inward/record.url?eid=2-s2.0-0022968286&partnerID=MN8TOARS