نتائج البحث - "Teresa Neuhann"

1

دورية أكاديمية

Optical Genome Mapping as a Potential Routine Clinical Diagnostic Method

المؤلفون: Hayk Barseghyan, Doris Eisenreich, Evgenia Lindt, Martin Wendlandt, Florentine Scharf, Anna Benet-Pages, Kai Sendelbach, Teresa Neuhann, Angela Abicht, Elke Holinski-Feder, Udo Koehler

المصدر: Genes, Vol 15, Iss 3, p 342 (2024)

مصطلحات موضوعية: optical genome mapping, OGM, chromosome analysis, CA, chromosomal microarray analysis, CMA, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/3/342Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/be689976f7e64536bb0810b1831e8c9fTest

View record in DOAJ

النص الكامل

2

دورية أكاديمية

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

المؤلفون: Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger

المصدر: PLoS ONE, Vol 16, Iss 7, p e0253987 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/79851959e93d45caa1af4f3bf738b073Test

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النص الكامل

3

دورية أكاديمية

Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

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

العلاقة: https://www.mdpi.com/2077-0383/11/2/372Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/549554968d74478c889a023802e08afaTest

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النص الكامل

4

دورية أكاديمية

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

المصدر: PLoS ONE, Vol 8, Iss 11, p e78496 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3827063?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becdTest

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النص الكامل

5

دورية أكاديمية

S1 Raw images -

المؤلفون: Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666)

العلاقة: https://figshare.com/articles/journal_contribution/S1_Raw_images_-/14943134Test

الإتاحة: https://doi.org/10.1371/journal.pone.0253987.s003Test

View record in BASE

6

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients

المؤلفون: Jan Henkel, Andreas Laner, Melanie Locher, Tobias Wohlfrom, Birgit Neitzel, Kerstin Becker, Teresa Neuhann, Angela Abicht, Verena Steinke-Lange, Elke Holinski-Feder

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68d57d800bda26e09d18d49298adfdfcTest
https://doi.org/10.1038/s41431-023-01380-2Test

7

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing

المؤلفون: Hannes Erdmann, Florian Schöberl, Mădălina Giurgiu, Rafaela Magalhaes Leal Silva, Veronika Scholz, Florentine Scharf, Martin Wendlandt, Stephanie Kleinle, Marcus Deschauer, Georg Nübling, Wolfgang Heide, Sait Seymen Babacan, Christine Schneider, Teresa Neuhann, Katrin Hahn, Benedikt Schoser, Elke Holinski-Feder, Dieter A Wolf, Angela Abicht

المصدر: Brain. 146:1831-1843

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9185fbaa8cfe51cf08a4f4fc93eaaad3Test
https://doi.org/10.1093/brain/awac377Test

8

Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

المؤلفون: David Geneviève, Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz-Pallares, Xtraordinaire Association, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Arpin Stéphanie, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier-Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco-Fenzy, William Dufour, Benjamin Durand, Camille ENGEL, Laurence Faivre, Fanny Ferroul, Mélanie FRADIN, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gérard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Delphine Héron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalova, Audrey Putoux, Marlène RIO, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran-Mau-Them, Gabriele Trimarchi, Marie Vincent, Marketa Vlckova, Dagmar Wieczorek, Marjolaine Willems, kevin yauy, Michaela Zelinová, Alban Ziegler, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::51bda5fc9b2ce8d9658317152dd59e70Test
https://doi.org/10.21203/rs.3.rs-2760508/v1Test

9

Präkonzeptionsscreening

المؤلفون: Carolina Courage, Udo Koehler, Stephanie Kleinle, Teresa Neuhann, Elke Holinski-Feder, Angela Abicht

المصدر: Gynäkologische Endokrinologie. 20:116-124

مصطلحات موضوعية: Reproductive Medicine, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::11673f587036bf3bb4f86080c6bd4130Test
https://doi.org/10.1007/s10304-021-00434-2Test

10

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy

المصدر: Brain, DOI: 10.1093/brain/awac336 (2022)

مصطلحات موضوعية: Fshd, Bisulfite Sequencing, Epigenetics, Methylation, Medizin, Neurology (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8299476da3c962ffc2d0b4734af825Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66395Test

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