المؤلفون: Miho Ishida, Philip Stanier, Daniyal J. Jafree, Emma Peskett, Claire Walsh, Jason Rihel, Cristina Alemán-Charlet, Kaitlyn M. Eckert, Sanchari Datta, Rimante Seselgyte, Thomas A. Hawkins, Marian Seda, Jeffrey G. McDonald, Hanaa Hariri, Lydia Teboul, Charalambos Demetriou, Gideon Pomeranz, Gudrun E. Moore, Letizia Vestito, Dale Bryant, W. Mike Henne, Maria Bitner-Glindzicz, Myriam Hemberger, Dagan Jenkins, Constance Maurer, Marcus Ghosh, James Cleak

المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: 0301 basic medicine, Molecular biology, Placenta, lcsh:Medicine, Diseases, Pathogenesis, medicine.disease_cause, Animals, Genetically Modified, Mice, 0302 clinical medicine, Pregnancy, lcsh:Science, Zebrafish, Sorting Nexins, Phospholipids, 0303 health sciences, Mutation, Multidisciplinary, Molecular medicine, Biological techniques, Cell Differentiation, Phenotype, Cell biology, Trophoblasts, Neurology, Models, Animal, Spinocerebellar ataxia, Female, Embryonic Development, Biology, Article, 03 medical and health sciences, Developmental biology, medicine, Genetics, Animals, Humans, Spinocerebellar Ataxias, Fetal Viability, Gene, Loss function, 030304 developmental biology, lcsh:R, Lipid metabolism, biology.organism_classification, medicine.disease, Lipid Metabolism, Mice, Inbred C57BL, Sorting nexin, 030104 developmental biology, lcsh:Q, 030217 neurology & neurosurgery, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5088837813b63ac8b07f9923f25c772Test
http://hdl.handle.net/10044/1/90147Test

المؤلفون: Miguel, Alsina Casanova, Ana, Monteagudo-Sánchez, Luciana, Rodiguez Guerineau, Franck, Court, Isabel, Gazquez Serrano, Loreto, Martorell, Carlota, Rovira Zurriaga, Gudrun E, Moore, Miho, Ishida, Montserrat, Castañon, Elisenda, Moliner Calderon, David, Monk, Julio, Moreno Hernando

المصدر: Human mutation. 38(6)

مصطلحات موضوعية: Comparative Genomic Hybridization, Hypertension, Pulmonary, Infant, Newborn, Forkhead Transcription Factors, Twins, Monozygotic, DNA Methylation, Persistent Fetal Circulation Syndrome, Pulmonary Alveoli, Genomic Imprinting, Pregnancy, Mutation, Humans, Female, Maternal Inheritance

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8a73fd270ab6dd9fb4515c52c9d84bd2Test
https://pubmed.ncbi.nlm.nih.gov/28256047Test

المؤلفون: Mina Ryten, Sérgio B. Sousa, Richard H Scott, Estelle Chanudet, Glenn Anderson, Lionel Van Maldergem, Dagan Jenkins, Philip L. Beales, Krystyna H. Chrzanowska, James Docker, Jorge M. Saraiva, Philip Stanier, Gudrun E. Moore, Miho Ishida, Angela Barnicoat, Joaquim Sá, Martina Simandlova, Duangrurdee Wattanasirichaigoon, Guergana Tasseva, Jean E. Vance, Alistair Calder

المصدر: Nature Genetics. 46:70-76

مصطلحات موضوعية: Male, Fosfatidilserinas, Embryo, Nonmammalian, Adolescent, Nitrogenous Group Transferases, Molecular Sequence Data, Dwarfism, Phosphatidylserines, Biology, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Child, Gene, Cells, Cultured, Zebrafish, 030304 developmental biology, Transferases de Grupos Nitrogenados, Phosphatidylethanolamine, 0303 health sciences, Mutation, Deficiência Intelectual, Syndrome, Phosphatidylserine, Fibroblasts, Hyperostosis, medicine.disease, 3. Good health, chemistry, Craniotubular Hyperostosis, Female, Anomalias Congénitas Múltiplas, 030217 neurology & neurosurgery, Cutis laxa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9095fc09a7d92cabf8a2a5dc6673d2d1Test
https://doi.org/10.1038/ng.2829Test

المؤلفون: Khalid Aldhorae, Franz-Josef Kramer, Hannah Schuenke, Gül Schmidt, Elisabeth Mangold, Johanna Klamt, Janis Stavusis, Heiko Reutter, Rudolf Reiter, Pinar Gültepe, Guntram Borck, Markus M. Nöthen, Andrea Hofmann, Miho Ishida, Bert Braumann, Ruth Raff, Philip Stanier, Nina Ishorst, Baiba Lace, Anne C. Böhmer, Michael Knapp, Alexander Hemprich, Sibylle Brosch, Lina Gölz, Gudrun E. Moore, Ann-Kathrin Hoebel, Peter Tessmann, Rimante Seselgyte, Stefanie Nowak, Kerstin U. Ludwig, Andreas Jäger, Rudolf H. Reich, Thomas Kreusch

المصدر: American journal of human genetics. 98(4)

مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Cleft Lip, Genome-wide association study, 030105 genetics & heredity, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, Open Reading Frames, Polymorphism (computer science), Report, medicine, Genetics, Coding region, Humans, Van der Woude syndrome, Genetics(clinical), Abnormalities, Multiple, Genetic Predisposition to Disease, Allele, Genetics (clinical), Alleles, Mutation, Cysts, Racial Groups, medicine.disease, Lip, Minor allele frequency, Cleft Palate, DNA-Binding Proteins, 030104 developmental biology, Case-Control Studies, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93973bc5ede729d0f80a6972287667eTest
https://pubmed.ncbi.nlm.nih.gov/27018475Test

المؤلفون: Anna C. Thomas, Miho Ishida, Eugene Healy, Gudrun E Moore, Veronica A. Kinsler, Neil J. Sebire

المصدر: The Lancet. 381:S58

مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, Pathology, medicine.medical_specialty, Mutation, Melanoma, General Medicine, Biology, RASopathy, medicine.disease, medicine.disease_cause, Loss of heterozygosity, Congenital melanocytic nevus, CDKN2A, medicine, Missense mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f70316a87bb1edd9ceb9ec0c28c041c8Test
https://doi.org/10.1016/s0140-6736Test(13)60498-5