المؤلفون: Thiago Corrêa, Cíntia B. Santos-Rebouças, Maytza Mayndra, Albert Schinzel, Mariluce Riegel

المصدر: Genes, Vol 12, Iss 5, p 632 (2021)

مصطلحات موضوعية: duplication syndromes, intellectual disability, axon guidance, PPI-network, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/12/5/632Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/10581463bf7b49a7bce31420ee4d382fTest

المؤلفون: Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon

المصدر: PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5386295?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4Test

المؤلفون: Franz Binkert, Albert Schinzel, Michael Mutter

المصدر: Swiss Medical Weekly, Vol 132, Iss 3334 (2002)

مصطلحات موضوعية: Trends in incidence, Prenatal diagnosis, incidence, Down syndrome, Trisomy 21, Medicine

وصف الملف: electronic resource

العلاقة: https://www.smw.ch/index.php/smw/article/view/205Test; https://doaj.org/toc/1424-3997Test

الوصول الحر: https://doaj.org/article/4d18cfa87b7f49149170ad57e0938e48Test

المؤلفون: Neda Saebnia, Reza Ebrahimzadeh-Vesal, Aliakbar Haddad-Mashhadrizeh, Nazanin Gholampour-Faroji, Albert Schinzel, Zeinab Neshati, Mohsen Azimi-Nezhad

المساهمون: University of Zurich, Neshati, Zeinab, Azimi-Nezhad, Mohsen

المصدر: J Assist Reprod Genet

مصطلحات موضوعية: Male, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, 610 Medicine & health, whole exome sequencing, 1309 Developmental Biology, 1311 Genetics, nonobstructive azoospermia, Testis, Genetics, Humans, Genetics (clinical), Azoospermia, protein modeling, Male infertility, DNA Helicases, Obstetrics and Gynecology, 2729 Obstetrics and Gynecology, General Medicine, molecular docking, 2743 Reproductive Medicine, Adenosine Diphosphate, Molecular Docking Simulation, Reproductive Medicine, Mutation, 570 Life sciences, biology, HFM1, Developmental Biology

وصف الملف: Saebnia2022_Article_IdentificationOfANewSplice_acc.pdf - application/pdf; 10815_2022_2433_Fig6_ESM.png - image/png; 10815_2022_2433_MOESM1_ESM.tif - image/tiff; 10815_2022_2433_MOESM2_ESM.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be62fdec62e4ce1c1682382714bf8daTest
https://www.zora.uzh.ch/id/eprint/219083Test/

المؤلفون: Albert Schinzel, Thiago Corrêa, Maytza Mayndra, Cíntia Barros Santos-Rebouças, Mariluce Riegel

المساهمون: University of Zurich, Riegel, Mariluce

المصدر: Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 632, p 632 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Neurogenesis, Genomic data, Chromosome Disorders, 610 Medicine & health, QH426-470, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, 1311 Genetics, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Protein Interaction Maps, PPI-network, Child, Gene, duplication syndromes, Genetics (clinical), axon guidance, Chromosome, medicine.disease, Phenotype, 030104 developmental biology, intellectual disability, Autism, 570 Life sciences, biology, Female, Identification (biology), 030217 neurology & neurosurgery

وصف الملف: application/pdf; genes-12-00632.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20e956ee70d97049265f87386da0743fTest

المؤلفون: Mariluce Riegel, Albert Schinzel, Bruno César Feltes, Thiago Corrêa

المصدر: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 187(3)

مصطلحات موضوعية: Genotype, Systems biology, Computational biology, Disease, Syndrome, Biology, Interactome, digestive system diseases, Chromosomes, Phenotype, Human interactome, Chromosome regions, Genetics, Humans, Gene Regulatory Networks, Gene, Genetics (clinical), Biological network, Network analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be31c2155555aff54293d19d81f03d6Test
https://pubmed.ncbi.nlm.nih.gov/33754460Test

المؤلفون: Konstantin Miller, Albert Schinzel, Elisabeth Blennow, Kamlesh Madan

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.biologia.uniba.it/eca/NEWSLETTER/NS-17/NL17web.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.458.1853Test; http://www.biologia.uniba.it/eca/NEWSLETTER/NS-17/NL17web.pdfTest

الإتاحة: http://www.biologia.uniba.it/eca/NEWSLETTER/NS-17/NL17web.pdfTest

المؤلفون: Xue Yan Duan, Bert B.A. de Vries, Michael J. Bamshad, Dorothy K. Grange, Callie S. Kwartler, Deborah A. Nickerson, Dongchuan Guo, Dieter Kotzot, Xuetong Shen, Ellen S. Regalado, Rolph Pfundt, Dianna M. Milewicz, Kenneth Lieberman, Alan C. Braverman, Heather L. Gornik, Lauren Mellor-Crummey, Albert Schinzel, Min-Lee Yang, Santhi K. Ganesh, Dong H. Kim

المساهمون: University of Zurich, Milewicz, Dianna M

المصدر: American Journal of Human Genetics, 100, 21-30
American Journal of Human Genetics, 100, 1, pp. 21-30

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, 2716 Genetics (clinical), medicine.medical_specialty, Vascular smooth muscle, Adolescent, 10039 Institute of Medical Genetics, DNA repair, Cell Cycle Proteins, Genes, Recessive, 610 Medicine & health, Fibromuscular dysplasia, Biology, Compound heterozygosity, Article, Bone and Bones, Muscle, Smooth, Vascular, Frameshift mutation, 03 medical and health sciences, 1311 Genetics, Internal medicine, Genetics, medicine, Fibromuscular Dysplasia, Humans, Exome, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Learning Disabilities, Vascular disease, Brachydactyly, Homozygote, Nuclear Proteins, Grange syndrome, Cell Cycle Checkpoints, Syndrome, Middle Aged, Cell cycle, medicine.disease, Pedigree, 030104 developmental biology, Endocrinology, Mutation, 570 Life sciences, biology, Female, Syndactyly, Transcription Factors

وصف الملف: Dong-chuan_Guo_et_al,_Loss-of-Function_Mutations_in_YY1AP1.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e360a5dd25aea135da58506d41d812e7Test
https://doi.org/10.1016/j.ajhg.2016.11.008Test

المؤلفون: Rahim Masood, Beatrice Oneda, Dunja Niedrist, Silvia Azzarello-Burri, Reza Asadollahi, Albert Schinzel, Oskar G. Jenni, Rosa Baldinger, B Latal, Anita Rauch

المساهمون: University of Zurich, Oneda, Beatrice

المصدر: Molecular Syndromology. 8:266-271

مصطلحات موضوعية: 0301 basic medicine, Genetics, 2716 Genetics (clinical), Monosomy, Microarray, Neocentromere, 10039 Institute of Medical Genetics, Ring chromosome, Chromosome, 610 Medicine & health, 030105 genetics & heredity, Biology, medicine.disease, Phenotype, 03 medical and health sciences, 1311 Genetics, 10036 Medical Clinic, medicine, Etiology, 570 Life sciences, biology, Original Article, Trisomy, Genetics (clinical)

وصف الملف: Oneda_et_al._Low-Level_Chromosokal_Moaaicism_Neurodevelopmental_Disorders.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3470a5e8c93b42ac8474b7caa25a04a7Test
https://doi.org/10.1159/000477189Test

المؤلفون: Ahmed Al-Rikabi, Niels Tommerup, Krystyna H. Chrzanowska, Nehir Edibe Kurtas, Paolo Reho, Daniela Larizza, Orsetta Zuffardi, Lusine Nazaryan-Petersen, Aldesia Provenzano, Teresa Mattina, Fiorenza Soli, Massimo Delledonne, Luciano Xumerle, Thomas Liehr, Federica Natacci, Edoardo Errichiello, Emmanouil Manolakos, Silvana Guerneri, Maria Clara Bonaglia, Alfredo Brusco, Albert Schinzel, Lorena Leonardelli, Sabrina Giglio

المساهمون: University of Zurich, Kurtas, Nehir Edibe

مصطلحات موضوعية: 2716 Genetics (clinical), 10039 Institute of Medical Genetics, 610 Medicine & health, Trisomy, chromothripsis, evolutionary trade-off, maternal meiotic nondisjunction, small supernumerary marker chromosome (sSMC), whole genome paired-end sequencing (WGS), Biology, Chromosomes, 03 medical and health sciences, 1311 Genetics, Meiosis, Prenatal Diagnosis, Genetics, Homologous chromosome, medicine, Humans, Supernumerary, Alleles, In Situ Hybridization, Fluorescence, Genetics (clinical), 030304 developmental biology, Chromosome Aberrations, Comparative Genomic Hybridization, 0303 health sciences, Chromothripsis, Mosaicism, 030305 genetics & heredity, Haplotype, Chromosome, medicine.disease, Phenotype, Haplotypes, Nondisjunction, 570 Life sciences, biology, Female, Maternal Inheritance, Maternal Age

وصف الملف: Kurtas_NE_et_al,_Small_supernumerary_marker_chromosomes.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a7e254bb5ee77041c542adf3c6cbb3Test
http://hdl.handle.net/11562/1010895Test