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1دورية أكاديمية
المؤلفون: Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Thomas Harasim, Teresa Neuhann, Anne Behnecke, Miriam Stampfer, Elke Holinski-Feder, Angela Abicht
المصدر: Journal of Clinical Medicine, Vol 11, Iss 2, p 372 (2022)
مصطلحات موضوعية: non-invasive prenatal testing, rare autosomal aneuploidies, copy number variations, clinical significance, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
مصطلحات موضوعية: Niemann-Pick Type C, NPC, Guidelines, Diagnosis, Management, Medicine
وصف الملف: electronic resource
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4
المؤلفون: Andreas Dufke, Markus Hoopmann, Stephan Waldmüller, Natalia Carmen Prodan, Stefanie Beck‐Wödl, Ute Grasshoff, Tilman Heinrich, Angelika Riess, Martin Kehrer, Ruth J. Falb, Alexandra Liebmann, Cristiana Roggia, Miriam Stampfer, Malou Schadeck, Amelie J. Müller, Mona Grimmel, Petra Stöbe, Darja Gauck, Rebecca Buchert‐Lo, Sarah Baumann, Karin Schäferhoff, Miriam Bertrand, Benita Menden, Marc Sturm, Leon Schütz, Olaf Riess, Stephan Ossowski, Tobias B. Haack, Karl Oliver Kagan
المصدر: Prenatal Diagnosis. 42:901-910
مصطلحات موضوعية: Adult, Parents, Fetus, Pregnancy, Hydrops Fetalis, Prenatal Diagnosis, Exome Sequencing, Humans, Obstetrics and Gynecology, Exome, Female, Ultrasonography, Prenatal, Genetics (clinical)
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5
المؤلفون: Lottie D, Morison, Elisabeth, Meffert, Miriam, Stampfer, Irene, Steiner-Wilke, Brigitte, Vollmer, Katrin, Schulze, Tracy, Briggs, Ruth, Braden, Adam, Vogel, Daisy, Thompson-Lake, Chirag, Patel, Edward, Blair, Himanshu, Goel, Samantha, Turner, Ute, Moog, Angelika, Riess, Frederique, Liegeois, David A, Koolen, David J, Amor, Tjitske, Kleefstra, Simon E, Fisher, Christiane, Zweier, Angela T, Morgan
المصدر: Journal of medical genetics.
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6دورية أكاديمية
المؤلفون: Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok
المصدر: Pediatrics and Neonatology, Vol 54, Iss 5, Pp 344-347 (2013)
مصطلحات موضوعية: filipin staining, Niemann–Pick type C disease, nonimmune hydrops fetalis, prenatal onset, Pediatrics, RJ1-570
وصف الملف: electronic resource
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7
المؤلفون: Jan Kern, Janina Gburek-Augustat, Klaus Harzer, Miriam Stampfer, I. Kraegeloh-Mann, Samuel Groeschel, Stefanie Beck-Woedl, Jennifer Just
المصدر: Neuropediatrics. 51:037-044
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Lysosomal storage disease, Humans, Juvenile, Age of Onset, Child, Niemann–Pick disease, type C, medicine.diagnostic_test, Adult patients, business.industry, Niemann-Pick Disease, Type C, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, White Matter, Juvenile onset, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Biomarker (medicine), Female, Neurology (clinical), business, Biomarkers, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3421b6d15980a92644141a44cae02b7
https://doi.org/10.1055/s-0039-1698451 -
8
المؤلفون: Paul Gissen, Saikat Santra, Jim Green, Maria Jose Coll, Andrea Dardis, Charlotte Dawson, Reena Sharma, Toni Mathieson, Shaun Bolton, Helena Jahnová, Jackie Imrie, Marc C. Patterson, Marie Therese Vanier, Tarekegn Geberhiwot, Vina Soran, Bruno Bembi, Ellen Crushell, Simon Jones, Mercedes Pineda Marfa, Miriam Stampfer
مصطلحات موضوعية: medicine.medical_specialty, Niemann–Pick disease, type C, business.industry, Medicine, business, Clinical disease, medicine.disease, Niemann–Pick disease, Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dd3b2e32b09f1edd24eacb9eb605e5f2
https://doi.org/10.21203/rs.3.rs-934191/v1 -
9
المؤلفون: Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
المصدر: Orphanet journal of rare diseases. 17(1)
مصطلحات موضوعية: Adult, Infant, Newborn, Humans, Pharmacology (medical), Niemann-Pick Disease, Type C, General Medicine, Prospective Studies, Registries, Enzyme Inhibitors, Child, Genetics (clinical), Retrospective Studies
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10
المؤلفون: Christiane Zweier, Ute Moog, Peter Bauer, Dieter Gläser, Jürgen Kohlhase, Miriam S. Reuter, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Angelika Riess, Ddd Study, André Reis, Pascal Joset, Anita Rauch, Stefanie Beck-Wödl, Kate Chandler, Katharina Steindl, Tracy A Briggs, Miriam Stampfer
المصدر: Journal of Medical Genetics. 54:64-72
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Stuttering, Developmental Disabilities, Mutation, Missense, Biology, Bioinformatics, medicine.disease_cause, Speech Disorders, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, Genetics, medicine, Humans, Point Mutation, Speech, Language disorder, Genetics (clinical), Exome sequencing, Sequence Deletion, Language Disorders, Mutation, Point mutation, Forkhead Transcription Factors, FOXP2, medicine.disease, Pedigree, 030104 developmental biology, Medical genetics, medicine.symptom, 030217 neurology & neurosurgery