يعرض 1 - 10 نتائج من 49 نتيجة بحث عن '"Jens, Schallner"', وقت الاستعلام: 0.87s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children

    المؤلفون: Elisa Nitz, Martin Smitka, Jens Schallner, Katja Akgün, Tjalf Ziemssen, Maja von derHagen, Victoria Tüngler

    المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2013-2024 (2021)

    مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/2328-9503Test

    الوصول الحر: https://doaj.org/article/a7f1937f6f3846e2a0304788b5715b38Test

    View record in DOAJ النص الكامل

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  2. 2
    Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

    المؤلفون: Henrike L. Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B. Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G. Calame, James R. Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann

    مصطلحات موضوعية: Cancer Research, Genetics, Genetics (clinical)

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f4c30e125d8e7b4b33e25f77fcc089Test
    http://edoc.mdc-berlin.de/23362/1/23362oa.pdfTest


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  3. 3
    دورية أكاديمية
    Correction: Diagnostic value of partial exome sequencing in developmental disorders.

    المؤلفون: Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump

    المصدر: PLoS ONE, Vol 15, Iss 9, p e0239959 (2020)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

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

    الوصول الحر: https://doaj.org/article/67aa0983cabd4e0a8b95788e0c4e8afbTest

    View record in DOAJ النص الكامل

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  4. 4
    Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

    المؤلفون: Janina Sörmann, Marcus Schewe, Peter Proks, Thibault Jouen-Tachoire, Shanlin Rao, Elena B. Riel, Katherine E. Agre, Amber Begtrup, John Dean, Maria Descartes, Jan Fischer, Alice Gardham, Carrie Lahner, Paul R. Mark, Srikanth Muppidi, Pavel N. Pichurin, Joseph Porrmann, Jens Schallner, Kirstin Smith, Volker Straub, Pradeep Vasudevan, Rebecca Willaert, Elisabeth P. Carpenter, Karin E. J. Rödström, Michael G. Hahn, Thomas Müller, Thomas Baukrowitz, Matthew E. Hurles, Caroline F. Wright, Stephen J. Tucker

    مصطلحات موضوعية: Genetics

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de95186b04ef58aa01a12b0a5e88aa3Test
    https://ora.ox.ac.uk/objects/uuid:9e4145cc-f7d2-4427-a681-824a5df36a17Test


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  5. 5
    FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy

    المؤلفون: Felix Boschann, Henrike Sczakiel, Max Zhao, Magdalena Danyel, Corinna Stoltenburg, Nadirah Damseh, Motee Ashhab, Tugce Balci, Kalene van Engelen, Matt Osmond, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarad, Atieh Eslahi, Behnaz Bakaeean, Reza Maroofian, Nadja Ehmke, Dominik Seelow, Denise Horn

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::db841332032830bda691c701211d4d2aTest
    https://doi.org/10.21203/rs.3.rs-2256298/v1Test


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  6. 6
    دورية أكاديمية
    Diagnostic value of partial exome sequencing in developmental disorders.

    المؤلفون: Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump

    المصدر: PLoS ONE, Vol 13, Iss 8, p e0201041 (2018)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    العلاقة: http://europepmc.org/articles/PMC6084857?pdf=renderTest; https://doaj.org/toc/1932-6203Test

    الوصول الحر: https://doaj.org/article/4a93d15dae9a40be9bf34e6c0eeb5248Test

    View record in DOAJ النص الكامل

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  7. 7
    Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

    المؤلفون: Stephen J. Guter, Laurie A. Demmer, Jasmine Lf Fung, Gerarda Cappuccio, Naomichi Matsumoto, Nicola Brunetti-Pierri, Catherine Sarret, Hamish S. Scott, Lynn Pais, Alison Yeung, Ken Saida, Christopher P. Barnett, Felix Boschann, Andre Heinen, Noriko Miyake, Jenny C. Taylor, Jonathan Gadian, Cyril Mignot, Boris Keren, Sandra Whalen, Hagar Mor-Shaked, Matteo P. Ferla, John Christodoulou, Raffaele Iorio, Alistair T. Pagnamenta, Tiong Yang Tan, Brian Hy Chung, Marcus Cy Chan, Susan M. White, Ruth Sheffer, Dana Mittag, Edwin H. Cook, Jens Schallner, Alicia B. Byrne, Rachel Stapleton, Natalie B Tan, Alison Kraus, Fabiola Di Dato

    المساهمون: Tan, Natalie B, Pagnamenta, Alistair T, Ferla, Matteo P, Gadian, Jonathan, Byrne, Alicia B, White, Sue, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Tan, N. B., Pagnamenta, A. T., Ferla, M. P., Gadian, J., Chung, B. H. Y., Chan, M. C. Y., Fung, J. L. F., Cook, E., Guter, S., Boschann, F., Heinen, A., Schallner, J., Mignot, C., Keren, B., Whalen, S., Sarret, C., Mittag, D., Demmer, L., Stapleton, R., Saida, K., Matsumoto, N., Miyake, N., Sheffer, R., Mor-Shaked, H., Barnett, C. P., Byrne, A. B., Scott, H. S., Kraus, A., Cappuccio, G., Brunetti Pierri, N., Iorio, R., Di Dato, F., Pais, L. S., Yeung, A., Tan, T. Y., Taylor, J. C., Christodoulou, J., White, S.

    المصدر: Journal of Medical Genetics
    Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩

    مصطلحات موضوعية: medicine.medical_specialty, Genomics, Biology, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, GNB2, Intellectual disability, Genetics, medicine, Missense mutation, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, G-beta protein, medicine.disease, developmental delay, intellectual disability, Medical genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human genome, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6b766cc9419af7689f1a0e5ddf2db6Test
    https://doi.org/10.1136/jmedgenet-2020-107462Test


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  8. 8
    Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

    المؤلفون: Joseph Porrmann, Jens Schallner, Deepika D'Cunha Burkardt, Maria Lisa Dentici, Pedro A. Sanchez-Lara, Ghayda M. Mirzaa, John M. Graham, William B. Dobyns, Nataliya Di Donato, Nicole Horsley, Benson Lee, Filomena Pirozzi, Claudia Cesario

    المصدر: Am J Med Genet A

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, endocrine system, Microcephaly, Adolescent, 030105 genetics & heredity, Biology, Short stature, Article, Frameshift mutation, 03 medical and health sciences, Exon, Cyclin D2, Genetics, medicine, Humans, Megalencephaly, Child, Genetics (clinical), Brain, Infant, Human brain, medicine.disease, Phenotype, Polydactyly, 030104 developmental biology, medicine.anatomical_structure, Polymicrogyria, Mutation, Female, medicine.symptom, Hydrocephalus

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f13cae16d923801ca49cdfe2b5db66fTest
    https://doi.org/10.1002/ajmg.a.62362Test


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  9. 9
    Serological Biomarker Profiles of Neurofilament Light Chain in Children and Adolescents with Spinal Muscular Atrophy and Healthy Controls

    المؤلفون: Tjalf Ziemssen, Victoria Tüngler, Jens Schallner, Katja Akgün, Martin Smitka, M. von der Hagen, E. Nitz

    المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.

    مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Neurofilament light, medicine, Biomarker (medicine), Spinal muscular atrophy, medicine.disease, business, Serology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0261d244982c1d0098f67d909f8d9780Test
    https://doi.org/10.1055/s-0041-1739654Test


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  10. 10
    Defective X-gating caused byde novogain-of-function mutations inKCNK3underlies a developmental disorder with sleep apnea

    المؤلفون: Matthew E. Hurles, Srikanth Muppidi, Jan Fischer, Volker Straub, Pradeep C. Vasudevan, Janina Sörmann, Maria Descartes, Joseph Porrmann, Thomas Baukrowitz, Paul R. Mark, Carrie A. Lahner, Michael G. Hahn, Pavel N. Pichurin, Alice Gardham, Marcus Schewe, Thibault R. H. Jouen-Tachoire, Caroline F. Wright, John R. Dean, Amber Begtrup, Jens Schallner, Stephen J. Tucker, Elena B. Riel, Shanlin Rao, Rebecca Willaert, Thomas Müller, Kirstin Smith, Karin E. J. Rödström, Katherine Agre, Elisabeth P. Carpenter, Peter Proks

    مصطلحات موضوعية: Developmental disorder, Gain of function, business.industry, medicine, Sleep apnea, Gating, medicine.disease, business, Receptor, Neuroscience

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cf1340798e7aa4606481beca7098b13aTest
    https://doi.org/10.1101/2021.08.05.21261490Test


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