-
1
المؤلفون: Nadja Baalmann, Malte Spielmann, Gabriele Gillessen- Kaesbach, Britta Hanker, Julia Schmidt, Christina M. Lill, Yorck Hellenbroich, Bianca Greiten, Katja Lohmann, Joanne Trinh, Irina Hüning
المصدر: European Journal of Medical Genetics. 66:104774
مصطلحات موضوعية: Genetics, General Medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3be5fcc1014a6518804b58d14dba0e72Test
https://doi.org/10.1016/j.ejmg.2023.104774Test -
2
المؤلفون: Irina Hüning, Lovisa Lovmar, Anna Erlandsson, Margarita Stefanova, Julia Rundberg, Kerstin Kutsche, Saideh Rajaei
المصدر: European Journal of Medical Genetics. 56:188-191
مصطلحات موضوعية: Male, medicine.medical_specialty, Ubiquitin-Protein Ligases, Biology, Exon, Esophagus, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Hypertelorism, Genetics (clinical), Hypospadias, Point mutation, Infant, Nuclear Proteins, Exons, General Medicine, Opitz G/BBB Syndrome, medicine.disease, Phenotype, Protein Structure, Tertiary, Tandem Repeat Sequences, Microtubule Proteins, Medical genetics, Tandem exon duplication, medicine.symptom, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17318fd28a1c184bba31b74f88758dfTest
https://doi.org/10.1016/j.ejmg.2013.01.004Test -
3
المؤلفون: Eva Hebert, Ikuo Masuho, Dusanka Savic-Pavicevic, Irina Hüning, Nickolas K. Skamangas, Sofia Steinrücke, Katja Lohmann, Daniel Trujillano, Valerija Dobricic, Ana Westenberger, Alexander Münchau, Gabriele Gillessen-Kaesbach, Christine Klein, Hauke Baumann, Dipak N. Patil, Kirill A. Martemyanov, Arndt Rolfs, Gabriela-Elena Oprea
المصدر: Human Molecular Genetics. :ddx018
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Mutant, Mutation, Missense, Biology, Frameshift mutation, 03 medical and health sciences, Heterotrimeric G protein, Genetics, Humans, Missense mutation, Exome, Child, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Neurons, Receptors, Dopamine D1, GTP-Binding Protein beta Subunits, Gene Expression Regulation, Developmental, Infant, Articles, General Medicine, Heterotrimeric GTP-Binding Proteins, 3. Good health, 030104 developmental biology, Child, Preschool, Female, GNB1, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bca631f0a69440bce859fefd0f044144Test
https://doi.org/10.1093/hmg/ddx018Test