المؤلفون: Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd

المؤلفون: Kaatje Heinelt, Juliane Strien, Annalisa Patrizi, María del Carmen Boente, Karl-Heinz Grzeschik, Yasemin Alanay, Nicolas Chassaing, Ben C.J. Hamel, Ingo Lohrisch, Marie Eleanore O. Nicolas, G. Eda Utine, Ian O. Ellis, Carlo Marcelis, Jeffrey A. Ascherman, Katrina Prescott, Bart Loeys, Arne König, Mauro Paradisi, Christina Raissa I. Francisco, Wolfgang Kastrup, Frank Oeffner, Patricia Silvia Della Giovanna, Paul J. Benke, Dorothea Bornholdt, Maria Piccione, Yasmin Mehraein, Cristina Has, Andreas R. Janecke, Ineke van der Burgt, Bettina Prager, Dana Pagliarini, Hildegunde Piza-Katzer, Marc S. Zeller, Rudolf Happle

المصدر: Human Mutation. 30:E618-E628

مصطلحات موضوعية: Genetics, Mutation, Genetic counseling, Nonsense mutation, Biology, medicine.disease_cause, medicine.disease, Focal dermal hypoplasia, PORCN, medicine, Missense mutation, Skewed X-inactivation, Genetics (clinical), Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69af5188a16267d619bc01fe9cc81272
https://doi.org/10.1002/humu.20992

المؤلفون: Jürgen Römisch, Hubert Brandstätter, Janja Brainovic, Andrea Heger, Bettina Prager, Rhoda Cortes

المصدر: Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis. 52(1)

مصطلحات موضوعية: Male, Lysis, Erythrocytes, Hematology, Antigen-Antibody Complex, Biology, medicine.disease, Molecular biology, Hemolysis, In vitro, ABO Blood-Group System, Titer, Plasma, Immune system, Isoantibodies, ABO blood group system, Monoclonal, medicine, biology.protein, Humans, Female, Antibody

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::098d0078e6618b95afe307aa82aa41eb
https://pubmed.ncbi.nlm.nih.gov/23706313

المؤلفون: Gunter Mehner, Erika Tolkendorf, Bettina Prager

المصدر: Prenatal Diagnosis. 11:339-342

مصطلحات موضوعية: Adult, medicine.medical_specialty, Amniotic fluid, Chromosomes, Human, Pair 22, Aneuploidy, Chromosome Disorders, Trisomy, Chromosomal translocation, Prenatal diagnosis, Translocation, Genetic, Pregnancy, Gene duplication, medicine, Humans, Genetics (clinical), Chromosome Aberrations, Gynecology, Fetus, Fetal Growth Retardation, business.industry, Obstetrics and Gynecology, medicine.disease, In utero, Karyotyping, Pregnancy Trimester, Second, Amniocentesis, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f053658ff256b59fc3f48c79fc892d0
https://doi.org/10.1002/pd.1970110511

المؤلفون: Stephanie Demuth, Peter N. Robinson, Beate Mitulla, Lutz Pfeiffer, Ursula Jung, Mirja Somer, Sigrid Tinschert, Rainer König, Bettina Prager, Petra Muschke, Dietmar Müller, Luitgard M. Neumann, Herbert Enders

المصدر: American journal of medical genetics. Part A. 135(3)

مصطلحات موضوعية: Joint hypermobility, Adult, Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Adolescent, Craniosynostosis, Marfan Syndrome, Craniofacial Abnormalities, Arachnodactyly, Camptodactyly, Craniosynostoses, stomatognathic system, Genetics, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Child, Genetics (clinical), business.industry, Palate, Shprintzen–Goldberg syndrome, Ear, Anatomy, Syndrome, medicine.disease, Hypotonia, Palpebral fissure, Child, Preschool, Karyotyping, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afbe4719149673416a0397580ae4873b
https://pubmed.ncbi.nlm.nih.gov/16333834

المؤلفون: Rita Exeler, Annelore Junge, Juergen Horst, Ingo Kennerknecht, Thomas Schmitt-John, Oliver Bartsch, Bettina Prager, Daniela Ehling, Beate Behre, J. Wirth

المصدر: Ehling, D, Kennerknecht, I, Junge, A, Prager, B, Exeler, R, Lemcke, B, Horst, J, Bartsch, O, Schmitt-John, T & Wirth, J 2004, ' Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies ', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, vol. 131A, pp. 265-372 .

مصطلحات موضوعية: Male, Monosomy, Chromosomes, Human, Pair 21, Biology, Exon, Holoprosencephaly, medicine, Humans, Genetics (clinical), In Situ Hybridization, Fluorescence, DNA Primers, medicine.diagnostic_test, Base Sequence, Breakpoint, Marfanoid, Infant, Newborn, medicine.disease, Subtelomere, Molecular biology, Palpebral fissure, Phenotype, Karyotyping, Female, Chromosome Deletion, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6977f7d559556b4cd066b271ffdb104
https://pure.au.dk/portal/da/publications/mild-phenotype-in-two-unrelated-patients-with-a-partial-deletion-of-21q222q223-defined-by-fish-and-molecular-studies(5cd91e00-6396-11dd-9251-000ea68e967b).html