المؤلفون: W. Peter Logan, Kenneth G. Porter, Brian P. McIlhatton, Patrick J. Morrison, Seamus J. Murphy

المصدر: Digestive Diseases and Sciences. 52:2784-2787

مصطلحات موضوعية: Genes, APC, Physiology, medicine.disease_cause, Exon, Transplant surgery, medicine, Humans, Genetic Predisposition to Disease, splice, Gene, Mutation, Splice site mutation, Reverse Transcriptase Polymerase Chain Reaction, business.industry, Gastroenterology, Colonoscopy, DNA, Neoplasm, Exons, Middle Aged, medicine.disease, Pedigree, Phenotype, Adenomatous Polyposis Coli, Attenuated familial adenomatous polyposis, Cancer research, Female, RNA Splice Sites, Familial Adenomatous Polyposis Coli, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b4f08056d99b623409e0fab46fad28
https://doi.org/10.1007/s10620-007-9779-3

المؤلفون: Bryan Winchester, W. Peter Logan, RB Wheeler, Elisabeth Young, Brian D. Lake

المصدر: Prenatal Diagnosis. 20:337-339

مصطلحات موضوعية: Pregnancy, Pathology, medicine.medical_specialty, Fetus, medicine.diagnostic_test, biology, Obstetrics and Gynecology, Chorionic villus sampling, Prenatal diagnosis, engineering.material, medicine.disease, Tripeptidyl peptidase I, Enzyme assay, Batten, medicine.anatomical_structure, embryonic structures, medicine, engineering, biology.protein, Chorionic villi, reproductive and urinary physiology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::120e116c3227730057cf61ae7705e422
https://doi.org/10.1002/(sici)1097-0223(200004)20:4<337::aid-pd811>3.0.co;2-#

المؤلفون: E P, Young, B G, Winchester, W, Peter Logan, R B, Wheeler, B D, Lake

المصدر: Prenatal diagnosis. 20(4)

مصطلحات موضوعية: Tripeptidyl-Peptidase 1, DNA Mutational Analysis, Aminopeptidases, Fatal Outcome, Chorionic Villi Sampling, Neuronal Ceroid-Lipofuscinoses, Pregnancy, Child, Preschool, Cytogenetic Analysis, Endopeptidases, Humans, Female, Chorionic Villi, Serine Proteases, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fdd0aa6ad657457d6bc9edc4d040cfeb
https://pubmed.ncbi.nlm.nih.gov/10740208

المؤلفون: W Peter Logan, Graham R. Taylor

المصدر: Current opinion in biotechnology. 6(1)

مصطلحات موضوعية: Genetics, Base Sequence, Inverse polymerase chain reaction, Molecular Sequence Data, Biomedical Engineering, Chromosome Mapping, Bioengineering, DNA, Biology, Telomere, Molecular biology, Polymerase Chain Reaction, Polymerase chain reaction optimization, Primer dimer, Animals, Humans, Digital polymerase chain reaction, Cloning, Molecular, Ligase chain reaction, Nested polymerase chain reaction, Applications of PCR, Hot start PCR, Biotechnology, DNA Primers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867a64ec0fea1347c761c4e26719a44b
https://pubmed.ncbi.nlm.nih.gov/7894078

المؤلفون: Young EP; Chemical Pathology, Great Ormond Street Hospital NHS Trust, Great Ormond Street, London WC1N 3JH, UK., Winchester BG, Peter Logan W, Wheeler RB, Lake BD

المصدر: Prenatal diagnosis [Prenat Diagn] 2000 Apr; Vol. 20 (4), pp. 337-9.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print Cited Medium: Print ISSN: 0197-3851 (Print) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Chorionic Villi Sampling*, Chorionic Villi/*enzymology , Endopeptidases/*analysis , Neuronal Ceroid-Lipofuscinoses/*diagnosis, Aminopeptidases ; Child, Preschool ; Cytogenetic Analysis ; DNA Mutational Analysis ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases ; Endopeptidases/genetics ; Fatal Outcome ; Female ; Humans ; Neuronal Ceroid-Lipofuscinoses/enzymology ; Pregnancy ; Serine Proteases ; Tripeptidyl-Peptidase 1