المؤلفون: Camille Kumps, Heather Paterson, Benoît Funalot, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Robin Clark, Elliott H. Sherr, Marion Gérard, Jasmine L.F. Fung, Emanuela Argilli, Megan E. Rech, Antonio Vitobello, Christian Netzer, Christian P. Schaaf, Coranne D. Aarts-Tesselaar, Angela Abicht, Lennart Lessmeier, Brian H.Y. Chung, Anne-Sophie Denommé-Pichon, Jason Carmichael, Frédéric Tran Mau-Them, Andrea Superti-Furga, Marion Aubert Mucca, Marcus Cy Chan, Nicolas Chassaing, Christine Coubes, Anne H. O’Donnell-Luria, Lynn Pais, Colleen Kennedy, Daphné Lehalle, Maries Joseph, Kathleen A. Leppig, Florian Erger, John Karl de Dios, Lance H. Rodan, Marjolaine Willems, Subhadra Ramanathan, Clara Velmans, Eleina M. England

المساهمون: Clinical Genetics

المصدر: Journal of Medical Genetics, 59(7), 697-705. BMJ Publishing Group
Journal of medical genetics, vol 59, iss 7
J Med Genet

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, Autism Spectrum Disorder, behavioural, Autism, Medical and Health Sciences, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, 2.1 Biological and endogenous factors, Aetiology, Child, Exome, Genetics (clinical), Pediatric, Genetics & Heredity, Syndrome, Biological Sciences, Mental Health, Autism spectrum disorder, Cohort, medicine.symptom, medicine.medical_specialty, Genetic counseling, Intellectual and Developmental Disabilities (IDD), human genetics, Article, 03 medical and health sciences, Seizures, Clinical Research, Intellectual Disability, Exome Sequencing, medicine, Genetics, Humans, business.industry, Human Genome, Macrocephaly, Neurosciences, medicine.disease, Human genetics, Megalencephaly, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, Congenital Structural Anomalies, mutation, business, 030217 neurology & neurosurgery, genetic counselling

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c510a325c2e94649d338b1b96fa5aaTest
https://pure.eur.nl/en/publications/7515de9f-5d35-478d-96af-39ac71c0a1a3Test

المؤلفون: Jarosław Walkowiak, Krzysztof Pawlaczyk, Marcin Zaniew, Marcin Kołbuc, Bodo B. Beck, Lennart Leßmeier, Jacek Wysocki, Dorota Salamon-Słowińska, Ilona Małecka

المصدر: Pediatric Nephrology. 35:1877-1886

مصطلحات موضوعية: Male, Nephrology, medicine.medical_specialty, Adolescent, Urinary system, DNA Mutational Analysis, 030232 urology & nephrology, Disease, 030204 cardiovascular system & hematology, Kidney, Gastroenterology, Hypomagnesemia, Longitudinal observation, Excretion, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, stomatognathic system, Reference Values, Internal medicine, medicine, Humans, Magnesium, Longitudinal Studies, Child, Hepatocyte Nuclear Factor 1-beta, Retrospective Studies, Vesico-Ureteral Reflux, business.industry, Age Factors, medicine.disease, HNF1B, Renal Reabsorption, Cross-Sectional Studies, Child, Preschool, Urogenital Abnormalities, Mutation, Pediatrics, Perinatology and Child Health, Nephritis, Interstitial, Female, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfcd1f0baae885a19dbc58a5bea1039Test
https://doi.org/10.1007/s00467-020-04576-6Test

المؤلفون: Oliver Semler, Lennart Leßmeier, Christian Netzer, Mirko Rehberg, Julia Etich, Helge Sill

المصدر: Medizinische Genetik. 31:372-382

مصطلحات موضوعية: 0301 basic medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, 0302 clinical medicine, business.industry, Genetics, Medicine, 030209 endocrinology & metabolism, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d4cf4ac25e93c23444e6b79b87752664Test
https://doi.org/10.1007/s11825-020-00287-3Test

المؤلفون: Mirko Rehberg, Oliver Semler, Christian Netzer, Julia Etich, Frank Zaucke, Helge Sill, Lennart Leßmeier

المصدر: Molecular and Cellular Pediatrics

مصطلحات موضوعية: Mechanism (biology), Genetic heterogeneity, business.industry, Mini Review, Bisphosphonates, Bioinformatics, medicine.disease, Pathophysiology, Bone resorption, Denosumab, Osteogenesis imperfecta, medicine, Missense mutation, Therapy, medicine.symptom, business, Wasting, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c263f84992cf01b5e48b5b7f2b4c490Test
https://pubmed.ncbi.nlm.nih.gov/32797291Test

المؤلفون: Karsten Niehaus, Frank-Jörg Vorhölter, Alfred Pühler, Tobias Pascal Loka, Fabian Schulte, Rabeaa S. Alkhateeb, Tim Steffens, Lennart Leßmeier

المصدر: Journal of Biotechnology. 232:89-98

مصطلحات موضوعية: DNA, Bacterial, 0301 basic medicine, Sucrose, Virulence Factors, Promoter fishing, Regulator, Bioengineering, Xanthomonas campestris, Applied Microbiology and Biotechnology, Chromatography, Affinity, Transcriptome, 03 medical and health sciences, chemistry.chemical_compound, Bacterial Proteins, Transcriptional regulation, Gene, Transcription factor, Genetics, Regulation of gene expression, biology, Gene Expression Profiling, Pull-clown assay, affinity purification, DNA, General Medicine, Xanthomonas campestris pathovar campestris, biology.organism_classification, 030104 developmental biology, chemistry, Virulence genes, Regulation, Transcription Factors, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04281c07c1f79e6ec752c0de743f78b7Test
https://doi.org/10.1016/j.jbiotec.2016.04.007Test

المؤلفون: Volker F. Wendisch, Michael Hoefener, Lennart Lessmeier

المصدر: Microbiology (Reading, England). 159(Pt 12)

مصطلحات موضوعية: chemistry.chemical_classification, Vanillic Acid, Ethanol, biology, Formaldehyde, Aldehyde dehydrogenase, Microbiology, Aldehyde Oxidoreductases, Corynebacterium glutamicum, Mycothiol, chemistry.chemical_compound, Enzyme, chemistry, Biochemistry, biology.protein, bacteria, Formaldehyde dehydrogenase, Biotransformation, Gene Deletion, Homotetramer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4530908fe509ce8351a425fc38987ddcTest
https://pubmed.ncbi.nlm.nih.gov/24065717Test

المؤلفون: Trygve Brautaset, Tonje Marita Bjerkan Heggeset, Anne Krog, Wim Quax, Mark Jan Jacobus Bernhard Sibbald, Julia Vorholt, Jonas Muller, Patrick Kiefer, Eva Potthoff, Wendisch, Volker F., Lennart Lessmeier, Stephanie Heux, Jean-Charles Portais

المساهمون: Nanotechnology and Biophysics in Medicine (NANOBIOMED), Biopharmaceuticals, Discovery, Design and Delivery (BDDD)

المصدر: PUB-Publications at Bielefeld University
University of Groningen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::323ec7237cc18553578b79b617b4d837Test
https://research.rug.nl/en/publications/b4dc3be9-94ab-40a3-975d-0e2d8ee3e6c4Test