المؤلفون: Gabriella Gazdagh, David Hunt, Anna Maria Cueto Gonzalez, Monserrat Pons Rodriguez, Ayeshah Chaudhry, Marcos Madruga, Fleur Vansenne, Deborah Shears, Aurore Curie, Eva‐Lena Stattin, Britt‐Marie Anderlid, Slavica Trajkova, Elena Sukarova Angelovska, Catherine McWilliam, Philip R. Wyatt, Mary O'Driscoll, Giles Atton, Anke K. Bergman, Pia Zacher, Leena D. Mewasingh, Antonio Gonzalez‐Meneses López, Olga Alonso‐Luengo, Htoo A. Wai, Ottilie Rohde, Pauline Boiroux, Anne Debant, Susanne Schmidt, Diana Baralle

المساهمون: Institut Català de la Salut, [Gazdagh G] Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK. Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. [Hunt D] Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, UK. [Cueto Gonzalez AM] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. [Pons Rodriguez M] Hospital Universitari Son Espases, Palma, Illes Balears, Spain. [Chaudhry A] Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada. Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada. [Madruga M] Hospital Viamed Santa Angela De la Cruz, Sevilla, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: enfermedades del sistema nervioso::malformaciones del sistema nervioso [ENFERMEDADES], phenotype, Nervous System Diseases::Nervous System Malformations [DISEASES], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], macrocephaly, Sistema nerviós - Malalties - Aspectes genètics, Fenotip, spectrin, Anomalies cromosòmiques, GEFD, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], Genetics, TRIO gene, Malformacions, Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], microcephaly, Medical Genetics, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], Genetics (clinical), Medicinsk genetik

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.presentationml.presentation; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed6d94a52318aae49c775be35045cbd5
https://doi.org/10.1002/ajmg.a.63194

المؤلفون: Joel G Ray, Miles D Thompson, Marian J Vermeulen, Chris Meier, Philip R Wyatt, Pui-yuen Wong, Anne M Summers, Ra A Farrell

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/aa/82/BMC_Pregnancy_Childbirth_2007_Sep_19_7_21.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.283.7143

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.283.7143

المؤلفون: Sylvie Langlois, Jason C. Ford, David Chitayat, Valérie A. Désilets, Sandra A. Farrell, Michael Geraghty, Tanya Nelson, Sarah M. Nikkel, David Skidmore, Andrea Shugar, R. Douglas Wilson, Jo-Ann Johnson, François Audibert, Victoria M. Allen, Alain Gagnon, Claire Blight, Philip R. Wyatt

المصدر: Journal of Obstetrics and Gynaecology Canada. 30:960-971

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Obstetrics and Gynecology, Medicine, business, Carrier screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e98a5bc9db4c3cd68d84ee563d4b0c03
https://doi.org/10.1016/s1701-2163(16)32976-0

المؤلفون: David Chitayat, Philip R. Wyatt, R. Douglas Wilson, Jo-Ann Johnson, François Audibert, Victoria Allen, Alain Gagnon, Sylvie Langlois, Claire Blight, Jo-Ann Brock, Valérie Désilets, Valérie A. Désilets, Sandra A. Farrell, Michael Geraghty, Tanya Nelson, Sarah M. Nikkel, David Skidmore, Andrea Shugar

المصدر: Journal of Obstetrics and Gynaecology Canada. 30:842-846

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, Obstetrics and Gynecology, Medicine, Carrier screening, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a29b06de4e47f84606c2907879b863ee
https://doi.org/10.1016/s1701-2163(16)32950-4

المؤلفون: David Chitayat, Philip R. Wyatt, R. Douglas Wilson, Jo-Ann Johnson, François Audibert, Victoria Allen, Alain Gagnon, Sylvie Langlois, Claire Blight, Jo-Ann Brock, Valerie Désilets, Valerie A. Désilets, Sandra A. Farrell, Michael Geraghty, Tanya Nelson, Sarah M. Nikkel, David Skidmore, Andrea Shugar

المصدر: Journal of Obstetrics and Gynaecology Canada. 30:837-841

مصطلحات موضوعية: medicine.medical_specialty, education.field_of_study, medicine.diagnostic_test, business.industry, Population, Obstetrics and Gynecology, medicine.disease, Premature ovarian failure, Fragile X syndrome, Obstetrics and gynaecology, Family medicine, medicine, Amniocentesis, Autism, Family history, Psychiatry, business, education, Mass screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a0c6e0007c8c2d8e6c7f19c5fa1fd00b
https://doi.org/10.1016/s1701-2163(16)32949-8

المؤلفون: Tianhua, Huang, Anne M, Summers, Philip R, Wyatt, Chris, Meier, Gilbert B, Côté

المصدر: Prenatal diagnosis. 23(2)

مصطلحات موضوعية: Adult, Canada, Estriol, Chorionic Gonadotropin, White People, Pregnancy, Reference Values, Case-Control Studies, Pregnancy Trimester, Second, Prenatal Diagnosis, Indians, North American, Humans, Mass Screening, Female, alpha-Fetoproteins, Down Syndrome, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6250ae8ffb65971f42848b12f65343d0
https://pubmed.ncbi.nlm.nih.gov/12575012

المؤلفون: Anne M, Summers, Tianhua, Huang, Philip R, Wyatt

المصدر: Prenatal diagnosis. 22(3)

مصطلحات موضوعية: Prenatal Diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ae1e72557a192b2e617e385c2cacb247
https://pubmed.ncbi.nlm.nih.gov/11920910

المؤلفون: Anne M, Summers, Tianhua, Huang, Philip R, Wyatt

المصدر: Prenatal diagnosis. 22(3)

مصطلحات موضوعية: Adult, Estriol, Pregnancy, High-Risk, Pregnancy Outcome, Trisomy, Chorionic Gonadotropin, Pregnancy, Prenatal Diagnosis, Humans, Female, alpha-Fetoproteins, Down Syndrome, Chromosomes, Human, Pair 18, Maternal Age

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0301aa0c664792ccf2a611a059c2d4bb
https://pubmed.ncbi.nlm.nih.gov/11920909

المؤلفون: Chris, Meier, Tianhua, Huang, Philip R, Wyatt, Anne M, Summers

المصدر: Clinical chemistry. 48(4)

مصطلحات موضوعية: Estriol, Pregnancy, Risk Factors, Pregnancy Trimester, Second, Humans, Female, Gestational Age, alpha-Fetoproteins, Down Syndrome, Chorionic Gonadotropin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::65ae4aabbb74b9873bbc161bf6a720e6
https://pubmed.ncbi.nlm.nih.gov/11901067

المؤلفون: Plasma Clin Chem, Tianhua Huang, Philip R. Wyatt, Anne M. Summers

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.clinchem.org/content/48/4/653.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.529.2353; http://www.clinchem.org/content/48/4/653.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.529.2353
http://www.clinchem.org/content/48/4/653.full.pdf

المؤلفون: Chris Meier, Tianhua Huang, Philip R. Wyatt, Anne M. Summers

المصدر: Prenatal Diagnosis; Jun2003, Vol. 23 Issue 6, p443, 4p

المؤلفون: David M. Cox, Philip R. Wyatt

المصدر: Human Heredity. 27:22-37

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Amniotic fluid, Cystic Fibrosis, Lesch-Nyhan Syndrome, Cystinosis, Prenatal diagnosis, Biology, Lipidoses, Muscular Dystrophies, Cell Line, Maple Syrup Urine Disease, Mucolipidoses, Pregnancy, Prenatal Diagnosis, Glycogen storage disease type II, Genetics, medicine, Humans, Genetics (clinical), Skin, medicine.diagnostic_test, Glycogen Storage Disease Type II, Genetic Diseases, Inborn, Infant, Newborn, Leukodystrophy, Metachromatic, Fibroblasts, Amniotic Fluid, medicine.disease, Fabry disease, Metachromatic leukodystrophy, Microscopy, Electron, Evaluation Studies as Topic, Cell culture, Immunology, Ultrastructure, Amniocentesis, Fabry Disease, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e420b528087be5bb0f7ac1a963254a2
https://doi.org/10.1159/000152849

المؤلفون: Jan Hoogstraten, David M Cox, Philip R. Wyatt

المصدر: Pediatric Research. 12:310-313

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Amniotic fluid, Cytoplasmic inclusion, Cell, Tay-Sachs disease, Fibroblasts, Biology, Amniotic Fluid, Lipidoses, medicine.disease, Lesion, Hexosaminidases, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine, Ultrastructure, Humans, Hexosaminidase, medicine.symptom, Fibroblast, Cells, Cultured, Skin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::569af56c661f0fd9308b464b49272ac1
https://doi.org/10.1203/00006450-197804000-00013

المؤلفون: Philip R. Wyatt, William L. Parker

المصدر: Canadian Society of Forensic Science Journal. 5:119-123

مصطلحات موضوعية: Agglutination (biology), Chromatography, Chemistry, Elution, Modified method, Absorption (chemistry), humanities, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9edb29185532ab0e7385578f806588d7
https://doi.org/10.1080/00085030.1972.10757294

المؤلفون: Philip R. Wyatt

المصدر: American Journal of Public Health. 71:1411-1411

مصطلحات موضوعية: Letter, business.industry, Environmental health, Infant, Newborn, Public Health, Environmental and Occupational Health, Screening programs, Humans, Medicine, Ethics, Medical, Genetic Testing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed983745445ba0c4ef77ecadcb56e26b
https://doi.org/10.2105/ajph.71.12.1411

المؤلفون: Philip R. Wyatt

المصدر: Pediatrics. 71:301-301

مصطلحات موضوعية: Value (ethics), Newborn screening, medicine.medical_specialty, Emotional vulnerability, business.industry, Family medicine, Pediatrics, Perinatology and Child Health, Health care, Vulnerability, medicine, Screening programs, business, Excuse

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1147499c14c1e2435b1bf2986df3bf4a
https://doi.org/10.1542/peds.71.2.301a