المؤلفون: Hee Seok Kweon, Tobias Lindig, Oliver Semler, Jinoh Kim, Andrea Bevot, Filippo Beleggia, Bernd Wollnik, Ravi Savarirayan, Lutz Garbes, Mi Jeong Kim, Kyung Ho Kim, Jutta Becker, David J. Amor, Purvi M. Kakadia, Simeon A. Boyadjiev, Angelika Rieß, Heike Hoyer-Kuhn, Karl Oliver Kagan, Stefan K. Bohlander, Christian Netzer, Yang Hoon Huh

المصدر: The American Journal of Human Genetics. 96:432-439

مصطلحات موضوعية: Male, Heterozygote, Protein Conformation, Mutation, Missense, Vesicular Transport Proteins, Biology, Endoplasmic Reticulum, Compound heterozygosity, Bone and Bones, Craniosynostoses, 03 medical and health sciences, 0302 clinical medicine, Report, Genetics, medicine, Animals, Humans, Missense mutation, Genetics(clinical), Eye Abnormalities, Craniofacial, Child, Alleles, Zebrafish, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Haplotype, Macrocephaly, Sequence Analysis, DNA, Osteogenesis Imperfecta, SEC23A, medicine.disease, Phenotype, Pedigree, Osteogenesis imperfecta, Female, medicine.symptom, 030217 neurology & neurosurgery, Hydrocephalus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8612a713b1d2a323081e418a0a7189b4Test
https://doi.org/10.1016/j.ajhg.2015.01.002Test

المؤلفون: Michaela Thoenes, Peter Herkenrath, Jutta Becker, Gudrun Nürnberg, Ruth Lang-Roth, Walid Fazeli, Julia Fricke, Barbara Stiller, Antje Neugebauer, Janine Altmüller, Raoul Heller, Alexander E Volk, Christian Kubisch

المصدر: Human molecular genetics 26(20), 4055-4066 (2017). doi:10.1093/hmg/ddx296

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Möbius syndrome, Velopharyngeal Insufficiency, Hypomimia, Facial Nerve Diseases, 0302 clinical medicine, Tubulin, Congenital fibrosis of the extraocular muscles, Missense mutation, Blepharoptosis, complications [Blepharoptosis], Genetics (clinical), Genes, Dominant, Bilateral facial palsy, pathology [Blepharoptosis], General Medicine, Middle Aged, pathology [Facial Paralysis], Facial paralysis, Pedigree, pathology [Velopharyngeal Insufficiency], Child, Preschool, genetics [Velopharyngeal Insufficiency], Female, medicine.symptom, medicine.medical_specialty, congenital [Velopharyngeal Insufficiency], Facial Paralysis, genetics [Tubulin], Biology, 03 medical and health sciences, genetics [Blepharoptosis], ddc:570, genetics [Facial Paralysis], Genetics, medicine, Humans, Molecular Biology, TUBB6 protein, human, pathology [Oculomotor Muscles], Bell Palsy, medicine.disease, 030104 developmental biology, Oculomotor Muscles, Mutation, congenital [Facial Paralysis], 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f54eb9bb550dfb23fbd85d6e149d11Test
https://pubmed.ncbi.nlm.nih.gov/29016863Test

المؤلفون: Sabine Rudnik-Schöneborn, Klaus Zerres, Jutta Becker, Carsten Steinkamm, Gabi Mücher

المصدر: Journal of Molecular Medicine. 76:303-309

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, Fibrocystin, Autosomal dominant polycystic kidney disease, Linkage Disequilibrium, Genetic Heterogeneity, Prenatal Diagnosis, Drug Discovery, medicine, Humans, Cyst, Genetics (clinical), Polycystic Kidney, Autosomal Recessive, biology, Genetic heterogeneity, business.industry, Chromosome Mapping, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Pedigree, biology.protein, Molecular Medicine, Chromosomes, Human, Pair 6, Differential diagnosis, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::645288bb07a37977d5bc469f7ae07d9bTest
https://doi.org/10.1007/s001090050221Test

المؤلفون: Luiz F. Onuchic, Michael Knapp, Stefan Somlo, Klaus Zerres, G. G. Germino, Jutta Becker, Lisa M. Guay-Woodford, Markus Moser, Gabi Mücher, Reinhard Büttner, Sabine Rudnik-Schöneborn, Ellis D. Avner

المصدر: Genomics. 48:40-45

مصطلحات موضوعية: Male, Linkage disequilibrium, Locus (genetics), Protein Serine-Threonine Kinases, Biology, Linkage Disequilibrium, Gene mapping, Genetic linkage, Genetics, medicine, Humans, Casein Kinase II, Glutathione Transferase, Polycystic Kidney, Autosomal Recessive, Retinal Degeneration, Haplotype, Chromosome Mapping, Methylmalonyl-CoA Mutase, Autosomal recessive polycystic kidney disease (ARPKD), medicine.disease, Autosomal Recessive Polycystic Kidney Disease, Pedigree, Haplotypes, Genetic marker, Chromosomes, Human, Pair 6, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2541a2b359f81d29dcf482707537a98cTest
https://doi.org/10.1006/geno.1997.5145Test

المؤلفون: Uwe Kornak, Katharina Keupp, Joan C. Marini, Mona Aglan, Tufan Çankaya, Hülya Kayserili, Pablo Lapunzina, Gökhan Yigit, K. Christopher Garcia, José A. Caparrós-Martín, Peter Krawitz, Björn Fischer, Claudia Y. Janda, Friederike Koerber, Jutta Becker, Stefan Breer, Umut Altunoglu, Oliver Semler, Bernhard Zabel, Jochen Hecht, Samia A. Temtamy, Filippo Beleggia, Aileen M. Barnes, Peer Eysel, Johannes Grünhagen, Stefan Mundlos, Victor L. Ruiz-Perez, Christian Netzer, Thorsten Schinke, Bernd Wollnik, Michael Amling, M. Steiner, Elena Makareeva, Ekkehart Lausch, Eckhard Schönau, Sergey Leikin

المساهمون: Federal Ministry of Education and Research (Germany), Federal Ministry of Science, Research and Economy (Austria), National Institutes of Health (US)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: Male, Heterozygote, animal structures, Molecular Sequence Data, Nonsense mutation, Osteoporosis, Wnt1 Protein, Biology, medicine.disease_cause, Bone and Bones, Article, Frameshift mutation, Mice, Bone Density, Pregnancy, Genetics, medicine, Animals, Humans, Missense mutation, Genetics(clinical), Allele, Child, Cells, Cultured, LDL-Receptor Related Proteins, Genetics (clinical), Mutation, Osteoblasts, Base Sequence, Infant, Newborn, Osteogenesis Imperfecta, medicine.disease, Pedigree, Mice, Inbred C57BL, Phenotype, Osteogenesis imperfecta, Child, Preschool, embryonic structures, Female, Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62a0f66a72e6049e686e233debec01e5Test

المؤلفون: Claus-Eric Ott, Britta Fiebig, Anne Michalk, Sigmar Stricker, Giovanni Botta, Jan Miertus, Nausheen Yaqoob, Valeria Giorgia Naretto, Tapio Pantzar, Friederike Körber, Dagmar Wieczorek, Markus Hoopmann, Brunhilde Wirth, Catrin Janetzki, Rosemarie Rupps, Jutta Becker, Markus Blankenburg, Stefan Mundlos, Katrin Hoffmann, Marisa Walther, Raoul Heller, Dominik Seelow

المصدر: The American Journal of Human Genetics. (2):464-476

مصطلحات موضوعية: medicine.medical_specialty, Nonsense mutation, Genes, Recessive, Receptors, Nicotinic, Biology, medicine.disease_cause, Models, Biological, Article, Mice, Internal medicine, medicine, Genetics, Animals, Humans, Missense mutation, Abnormalities, Multiple, Receptors, Cholinergic, Genetics(clinical), Muscle, Skeletal, In Situ Hybridization, Genetics (clinical), Acetylcholine receptor, Myasthenic Syndromes, Congenital, Mutation, Congenital myasthenic syndrome, medicine.disease, Lethal Multiple Pterygium Syndrome, Pedigree, RAPSN, Fetal Diseases, Endocrinology, Multiple pterygium syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f88eb143e55a88fe08d95296ac498983Test