المؤلفون: Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner, Maja von der Hagen, Denise Emmerich, Jirko Kühnisch, Hans Morreau, Frederik J Hes, Victor F Mautner, Anja Harder, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk

المصدر: PLoS ONE, Vol 10, Iss 3, p e0119030 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/e0dfcdbafa084e828677cdf02a011cd5Test

المؤلفون: Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Osswald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, Mateusz Kolanczyk

المصدر: PLoS ONE, Vol 9, Iss 1, p e86115 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3897656?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/de9ddbe8b36945668ba2b0011dbb6f5aTest

المؤلفون: Denise Emmerich, Björn Fischer-Zirnsak, Peter Ruokonen, Barbara Seliger, Renate Buchen, Eva Klopocki, Peter Krawitz, Jochen Hecht, Katrin Hoffmann, Thomas Reinhard, Dagmar Quandt, Ekkehart Lausch, Thomas Hollemann, Thorsten Pfirrmann, Bernhard Zabel, Claudia Auw-Haedrich, Pablo Villavicencio-Lorini, Sigmar Stricker, Peter Meyer

مصطلحات موضوعية: Male, Adolescent, ved/biology.organism_classification_rank.species, DNA Mutational Analysis, Xenopus, Gene Expression, Nerve Tissue Proteins, Bone Morphogenetic Protein 4, Bone morphogenetic protein, Cornea, Megalocornea, Xenopus laevis, Genetics, medicine, Animals, Humans, Limbal stem cell, Model organism, Eye Proteins, Frameshift Mutation, Molecular Biology, Genetics (clinical), Genetic Association Studies, Cornea disorder, biology, Base Sequence, ved/biology, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, biology.organism_classification, medicine.disease, Phenotype, eye diseases, Cell biology, Pedigree, medicine.anatomical_structure, Female, sense organs, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf4ca420cd52c7cb2cb231f36f77f8bTest
http://doc.rero.ch/record/300559/files/ddv063.pdfTest

المؤلفون: Denise Emmerich, Jochen Hecht, Peter Krawitz, Sabine Uhrig, Claire Schlack, Gernot Grangl, Stefan Mundlos, Denise Horn, Karolina Kobus, Katrin Marschner, Barbara Plecko, Peter N. Robinson, Marta Miaczynska, Anna Hupalowska, Uwe Kornak, Mateusz Kolanczyk

المساهمون: University of Zurich

المصدر: European journal of human genetics

مصطلحات موضوعية: Male, 2716 Genetics (clinical), Adolescent, Molecular Sequence Data, Mutation, Missense, Gene Expression, 610 Medicine & health, Biology, Heart Septal Defects, Atrial, Article, Cell Line, Craniofacial Abnormalities, KIAA0196, symbols.namesake, 1311 Genetics, Genes, X-Linked, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Exome, Amino Acid Sequence, Child, Genetic Association Studies, Genetics (clinical), X-linked recessive inheritance, Exome sequencing, Sanger sequencing, Comparative Genomic Hybridization, High-Throughput Nucleotide Sequencing, Proteins, medicine.disease, Pedigree, Phenotype, 3C syndrome, 10036 Medical Clinic, symbols, Corrigendum, Dandy-Walker Syndrome, Sequence Alignment

وصف الملف: application/pdf; KolanczykM, 2015.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35c86da40822b374fbbe92a1408856bTest
https://hdl.handle.net/11858/00-001M-0000-0025-7892-711858/00-001M-0000-0025-7894-3Test

المؤلفون: Julia Grohmann, Denise Emmerich, Jirko Kühnisch, Nadine Kossler, Uwe Kornak, Mateusz Kolanczyk, Susanne Schrof, Sigrid Tinschert, Kay Raum, Claudia Lange, Stefan Mundlos, Jong Seto, Falk Thielemann, David A. Stevenson, Thaqif El Khassawna, Karolina Kobus, Peter Varga, Monika Osswald, Georg N. Duda, Florent Elefteriou, Wenke Seifert, Peter Fratzl, Sabine Stumpp

المصدر: PLoS One
PLoS ONE, Vol 9, Iss 1, p e86115 (2014)
PLoS ONE

مصطلحات موضوعية: Pathology, Anatomy and Physiology, Mouse, Bone density, Osteoporosis, Long bone, Bone Matrix, lcsh:Medicine, Bone tissue, Mice, Bone Density, lcsh:Science, Musculoskeletal System, Mice, Knockout, Neurofibromin 1, Multidisciplinary, Chemistry, Osteoblast, Animal Models, Biomechanical Phenomena, medicine.anatomical_structure, Osteocyte, Medicine, Collagen, Porosity, Research Article, medicine.medical_specialty, Histology, Neurofibromatosis 1, Osteocytes, Bone and Bones, Model Organisms, Calcification, Physiologic, ddc:570, Genetics, medicine, Animals, Bone, Biology, Homeodomain Proteins, Tibia, lcsh:R, medicine.disease, Osteopenia, Genetics of Disease, Blood Vessels, Cortical bone, lcsh:Q, Diaphyses, Gene Function

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ceb83280a21bb4004a45b2c613a19b3Test
https://hdl.handle.net/11858/00-001M-0000-0025-B389-511858/00-001M-0000-0025-B382-4Test

المؤلفون: Monika Osswald, Tomasz Zemojtel, Peter N. Robinson, Martin Vingron, Denise Emmerich, Malte Spielmann, Peter Krawitz, Verena Heinrich, Katharina Wimmer, Jirko Kühnisch, Jochen Hecht, Sigrid Tinschert, Ute Müller, Stefan Mundlos, Karolina Kobus, Mateusz Kolanczyk, Peter Berlien, Victor-F Mautner

المصدر: European journal of human genetics

مصطلحات موضوعية: Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Skin Neoplasms, Somatic cell, Short Report, Biology, medicine.disease_cause, Somatic evolution in cancer, Polymorphism, Single Nucleotide, Clonal Evolution, symbols.namesake, Germline mutation, Genetics, medicine, Humans, Exome, Neurofibromatosis, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, Neurofibromin 1, Middle Aged, medicine.disease, nervous system diseases, symbols, Female

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286d844ce0ec40f56e2b660611d7ea0aTest
https://pubmed.ncbi.nlm.nih.gov/25293717Test