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المؤلفون: Jessika Johannsen, Jonas Denecke, Roberto Colombo, Tatjana Bierhals, Marta Bertoli, Franziska Degenhardt, Eva Wohlleber, Tim M. Strom, Alexander M. Zink, Jessica Becker, Davor Lessel, Elisabeth Mangold, Dagmar Wieczorek, Laura M Yates, Kirsten Cremer, Hartmut Engels, Kerstin U. Ludwig, Sophia Peters, Theresia Herget, Maja Hempel, Isabelle C Windheuser, Hela Hundertmark
المصدر: Am. J. Med. Genet. A 182, 1021-1031 (2020)
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, Adolescent, Medizin, Nerve Tissue Proteins, Haploinsufficiency, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Short stature, Young Adult, 03 medical and health sciences, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Obesity, Child, Genetics (clinical), Exome sequencing, Point mutation, Macrocephaly, Microarray Analysis, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Chromosomes, Human, Pair 2, Female, Chromosomal Microarray, Microdeletion 2p25, 3, Myt1l, Whole Exome Sequencing, Chromosome Deletion, medicine.symptom, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6687b40b1f36cdad3881b0200ff57d0Test
https://doi.org/10.1002/ajmg.a.61515Test -
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المؤلفون: Martin Mücke, Alexander Münchau, Isabelle C Windheuser, Lorenz Grigull, Christiane Stieber, Sinem Tunc, Frank Klawonn, Thomas Klockgether
المصدر: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 60:517-522
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 0302 clinical medicine, Public Health, Environmental and Occupational Health, 030105 genetics & heredity, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ee9fdc61c1b59b417a8cec8b83839288Test
https://doi.org/10.1007/s00103-017-2535-8Test -
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المؤلفون: Isabelle C. Windheuser
المصدر: Fälle Seltener Erkrankungen-Patienten Ohne Diagnose
مصطلحات موضوعية: business.industry, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3fc17b20f36307e75bd44fc229efb322Test
https://doi.org/10.1016/b978-3-437-15041-8.00013-7Test -
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المؤلفون: Hartmut Engels, Thomas Wieland, Jessica Becker, Stefan Aretz, Dagmar Wieczorek, Johanna Schäfgen, Sarah Kim, Kirsten Cremer, Tim M. Strom, Isabelle C Windheuser, Martina Kreiß, Alexander M. Zink
المصدر: Eur. J. Hum. Genet. 24, 1739-1745 (2016)
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, medicine.medical_specialty, Adolescent, Autism Spectrum Disorder, media_common.quotation_subject, Nonsense, Medizin, Penetrance, Biology, Bioinformatics, Article, Gigantism, Frameshift mutation, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Exome, Frameshift Mutation, Genetics (clinical), Exome sequencing, media_common, Macrocephaly, Syndrome, medicine.disease, Megalencephaly, 030104 developmental biology, Codon, Nonsense, Overgrowth syndrome, Medical genetics, medicine.symptom, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5ca29aea6d588a5f2a2cfa3b2ffb12Test
http://europepmc.org/articles/pmc5117939Test