المؤلفون: Maximilian G. W. Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M. Neuhann

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: epilepsy, pediatric, neurology, syndromic, genetics, next-generation sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1276238/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/ddb88b4a6eb14a39be8ecc8917e83de0

المؤلفون: Bernd Eiben, Ralf Glaubitz, Thomas Winkler, Anna Teubert, Heike Borth

المصدر: Journal of Laboratory Physicians, Vol 15, Iss 04, Pp 590-595 (2023)

مصطلحات موضوعية: noninvasive prenatal testing, twin pregnancy, trisomy, sensitivity, specificity, positive predictive value, Medicine

Relation: https://doaj.org/toc/0974-2727; https://doaj.org/toc/0974-7826; https://doaj.org/article/c0c9b3fa6e194a6687a18a503b30ac05

الاتاحة: https://doi.org/10.1055/s-0043-1770066
https://doaj.org/article/c0c9b3fa6e194a6687a18a503b30ac05

المؤلفون: Jörg Schmidtke, Peter Philipp, Kathrin Rommel, Ralf Glaubitz, Jörg T. Epplen, Michael Krawczak

المصدر: Genes; Volume 13; Issue 4; Pages: 684

مصطلحات موضوعية: genomics, England, panelapp, orphadata, eurogentest/ESHG, recommendations, core genes, genetic epidemiology

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13040684

الاتاحة: https://doi.org/10.3390/genes13040684

المؤلفون: Elena Ioana Braicu, Andreas du Bois, Jalid Sehouli, Julia Beck, Sonia Prader, Hagen Kulbe, Bernd Eiben, Philipp Harter, Alexander Traut, Klaus Pietzner, Ralf Glaubitz, Beyhan Ataseven, Radoslav Chekerov, Christoph Keck, Thomas Winkler, Sebastian Heikaus, Peggy Gellendin, Ekkehard Schütz, Florian Heitz

المصدر: Cancers; Volume 14; Issue 1; Pages: 168

مصطلحات موضوعية: epithelial ovarian cancer, high-grade, debulking surgery, liquid biopsy, disease monitoring, tumor burden

وصف الملف: application/pdf

Relation: Cancer Therapy; https://dx.doi.org/10.3390/cancers14010168

الاتاحة: https://doi.org/10.3390/cancers14010168

المؤلفون: Bernd Eiben, Ralf Glaubitz, Thomas Winkler, Eberhard Merz

المصدر: Ultraschall in der Medizin - European Journal of Ultrasound.

مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9a9e2eb13793712e14a8d460359e882a
https://doi.org/10.1055/a-2028-8108

المؤلفون: Maximilian G. W. Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M. Neuhann

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, epilepsy, pediatric, neurology, syndromic, genetics, next-generation sequencing

Relation: https://figshare.com/articles/dataset/Data_Sheet_2_Prospective_evaluation_of_NGS-based_sequencing_in_epilepsy_patients_results_of_seven_NASGE-associated_diagnostic_laboratories_docx/24751470

الاتاحة: https://doi.org/10.3389/fneur.2023.1276238.s002
https://figshare.com/articles/dataset/Data_Sheet_2_Prospective_evaluation_of_NGS-based_sequencing_in_epilepsy_patients_results_of_seven_NASGE-associated_diagnostic_laboratories_docx/24751470

المؤلفون: Nargül Kutur, Ralf Glaubitz, Anna Teubert, Bernd Eiben, Heike Borth, Sarah Knippenberg, Thomas Winkler

المصدر: Archives of Gynecology and Obstetrics

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Monosomy, Positive predictive value, Trisomy 13 Syndrome, Aneuploidy, Noninvasive prenatal testing, Trisomy, 030105 genetics & heredity, Single Center, Fetal fraction, VeriSeq NIPT Solution, Maternal-Fetal Medicine, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, medicine, Humans, Fetus, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Obstetrics and Gynecology, General Medicine, Sequence Analysis, DNA, medicine.disease, Predictive value, Highly sensitive, Cell-free fetal DNA, Female, Down Syndrome, business, Cell-Free Nucleic Acids, Fetal chromosomal aneuploidies, Trisomy 18 Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71bb3dda5e7681625b9bb9841c792d07
http://europepmc.org/articles/PMC8087552

المؤلفون: Bernd Eiben, Ralf Glaubitz, Christian Eiben, Thomas Winkler, Ekkehard Schütz, Wolf Kupatt, Julia Beck, Helmut Wagner, Michael Oellerich, Anna Teubert

المصدر: Deutsche Zeitschrift für Onkologie. 51:60-64

مصطلحات موضوعية: Gynecology, 0303 health sciences, Cancer Research, medicine.medical_specialty, business.industry, Predictive value, 3. Good health, 03 medical and health sciences, Tumor Biomarkers, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Liquid biopsy, business, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e7944250a321d1c29b0eea0011187417
https://doi.org/10.1055/a-0827-9604

المؤلفون: Thomas Winkler, Bernd Eiben, Nargül Kutur, Anna Teubert, Sarah Knippenberg, Ralf Glaubitz, Heike Borth, Christina Courtis

المصدر: Obstetrics and Gynecology Reports. 5

مصطلحات موضوعية: Monosomy X, medicine.medical_specialty, Obstetrics, business.industry, medicine, business, Trisomy, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::658d3e7948e66c77dbcafe4303ef80a7
https://doi.org/10.15761/ogr.1000157

المؤلفون: Jörg, Schmidtke, Jörg T, Epplen, Ralf, Glaubitz, Tiemo, Grimm, R Peter, Nippert, Holger, Tönnies, Klaus, Zerres, Irmgard, Nippert

المصدر: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz. 63(9)

مصطلحات موضوعية: National Health Programs, Germany, Humans, Genetic Counseling, Genetic Testing, Referral and Consultation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8ca4c470704bb31567f95e3c2c8e5f24
https://pubmed.ncbi.nlm.nih.gov/32816063

المؤلفون: Faten Moassass, Thomas Liehr, Kathleen Wilhelm, Walid Al Achkar, Rami A. Jarjour, Sarah Knippenberg, Amedes Genetics, Manar As’sad, Abdulsamad Wafa, Suher Almedani, Ralf Glaubitz

المصدر: Research Results in Biomedicine. 6

مصطلحات موضوعية: Genetics, CHARGE syndrome, Exon, Chd7 gene, Kallmann syndrome, Hypogonadotropic hypogonadism, Mutation (genetic algorithm), medicine, Anosmia, General Medicine, medicine.symptom, Biology, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5549c90369ef226ed910b6f276fca3e6
https://doi.org/10.18413/2658-6533-2020-6-2-0-1

المؤلفون: Ralf Glaubitz, Kathrin Wittkowski, Jörg Schmidtke

المصدر: Molecular and cellular probes. 45

مصطلحات موضوعية: medicine.medical_specialty, Genetic Medicine, Standard of Good Practice, MEDLINE, Biology, DNA sequencing, 03 medical and health sciences, Informed consent, medicine, Humans, Medical physics, Genetic Testing, Molecular Biology, 030304 developmental biology, Genetic testing, 0303 health sciences, Informed Consent, medicine.diagnostic_test, 030306 microbiology, Molecular genetic testing, High-Throughput Nucleotide Sequencing, Cell Biology, Sequence Analysis, DNA, Test (assessment), Early Diagnosis, Cardiovascular Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e243bb8354571aceaf3c4375d6aa9b11
https://pubmed.ncbi.nlm.nih.gov/31059777

المؤلفون: Bernd Eiben, Karl Oliver Kagan, Ralf Glaubitz

المصدر: Medizinische Genetik. 26:382-390

مصطلحات موضوعية: business.industry, Genetics, Medicine, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f96e11240e78b1fddf05a6a1ed151f50
https://doi.org/10.1007/s11825-014-0021-3

المؤلفون: Ralf Lichtinghagen, Ralf Glaubitz

المصدر: cclm. 33:87-94

مصطلحات موضوعية: DNA, Bacterial, Bordetella pertussis, Whooping Cough, Molecular Sequence Data, Clinical Biochemistry, Cross Reactions, Biology, Polymerase Chain Reaction, Genome, Competitive pcr, law.invention, chemistry.chemical_compound, law, Nasopharynx, Escherichia coli, medicine, Humans, Cloning, Molecular, Child, Whooping cough, Polymerase chain reaction, Base Sequence, Biochemistry (medical), Nucleic Acid Hybridization, Reproducibility of Results, General Medicine, biology.organism_classification, medicine.disease, Virology, Dna detection, chemistry, Evaluation Studies as Topic, Tos ferina, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e57eaad5eaa29361ebc0b9ee70393060
https://doi.org/10.1515/cclm.1995.33.2.87

المؤلفون: Bernd Eiben, Ralf Glaubitz, Arens Hans-Jürgen

المصدر: Fluorescence In Situ Hybridization (FISH) — Application Guide ISBN: 9783540705802

مصطلحات موضوعية: Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51301b481c9c4c25ce04b68718b9fcac
https://doi.org/10.1007/978-3-540-70581-9_11

المؤلفون: Bernd Eiben, Ralf Glaubitz

المصدر: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 53(3)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Histology, Maternal blood, Ultrasonography, Prenatal, Human chorionic gonadotropin, 03 medical and health sciences, Nuchal translucency, Pregnancy, Prenatal Diagnosis, medicine, Humans, Pregnancy-Associated Plasma Protein-A, Chorionic Gonadotropin, beta Subunit, Human, Nasal Bone, Biochemical markers, Chromosome Aberrations, 030102 biochemistry & molecular biology, business.industry, Ultrasound, Age Factors, Nasal bone, Blood proteins, First trimester, Pregnancy Trimester, First, 030104 developmental biology, Female, Anatomy, Down Syndrome, business, Nuchal Translucency Measurement, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::076755177b3d53a66b9cc8b29f6052d3
https://pubmed.ncbi.nlm.nih.gov/15750002

المؤلفون: Bernd Eiben, Ralf Glaubitz

المصدر: The Lancet. 366:1161-1162

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::994d6a07eceab4f093ed8dcb6857a0fc
https://doi.org/10.1016/s0140-6736(05)67473-9