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المؤلفون: Eugen Widmeier, Raffaella A. Morotti, Emily K Mis, Velibor Tasic, Kathya Arana, Jonathan Marquez, Monica Konstantino, Julia Baptista, Mustafa K. Khokha, Charu Deshpande, Julie A. McGlynn, Hannah Hugo, Saquib A. Lakhani, Martin Konrad, Friedhelm Hildebrandt, Nina Mann, Lauren Jeffries, Weizhen Ji, Sian Ellard, Engin Deniz
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, renal medicine, Xenopus, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, developmental, Genetics (clinical), Tissue homeostasis, Cystic kidney, Kidney, Developmental Defects, biology, Cilium, biology.organism_classification, medicine.disease, Phenotype, 3. Good health, Ciliopathy, 030104 developmental biology, medicine.anatomical_structure, molecular genetics, hydrocephalus, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9fa42ef0f8d78dd5e39e35cf436ddaTest
https://doi.org/10.1136/jmedgenet-2019-106805Test -
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المؤلفون: Silvia Kalantari, Isabel Filges
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Kinesins, Context (language use), Biology, Kidney, Ciliopathies, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Ciliogenesis, Genetics, medicine, Humans, Genetic Predisposition to Disease, Cilia, Urinary Tract, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Developmental Defects, Cilium, Brain, medicine.disease, Phenotype, Multigene Family, Medical genetics, Kinesin, clinical genetics, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9fea09f59b38a076a8d2b96e1bf6230Test
https://doi.org/10.1136/jmedgenet-2019-106769Test -
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المؤلفون: Pamela A. Frischmeyer-Guerrerio, Janice S. Lee, Cyrus Keyvanfar, Rashmi Mishra, Denise K. Liberton, Konstantinia Almpani, Priyam Jani, Quynh C Nguyen, Olivier Duverger, Pamela Orzechowski
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Adolescent, diagnosis, Receptor, Transforming Growth Factor-beta Type I, Gene mutation, Loeys–Dietz syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, stomatognathic system, medicine, Humans, genetics, Genetic Predisposition to Disease, Craniofacial, Child, Connective Tissue Diseases, Genetics (clinical), Loeys-Dietz Syndrome, Enamel paint, Developmental Defects, business.industry, Tooth Abnormalities, Receptor, Transforming Growth Factor-beta Type II, 030206 dentistry, Middle Aged, medicine.disease, Connective tissue disease, Penetrance, stomatognathic diseases, 030104 developmental biology, Phenotype, connective tissue disease, visual_art, Mutation, visual_art.visual_art_medium, Female, getting research into practice, Malocclusion, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6fde6f9921e9b06dbd444f668bcbe0Test
http://europepmc.org/articles/PMC7525783Test -
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المؤلفون: Lihadh Al-Gazali, Paul R. Mark, Tommaso Mazza, Sarah Brandenberger, Mala Isrie, Andrea Poretti, Ratna Puri, Hilde Van Esch, Alessia Micalizzi, Damir Musaev, Marta Romani, Philippe Moerman, Bart De Keersmaecker, Ichraf Kraoua, Stefano D'Arrigo, Hülya Kayserili, Susanne Roosing, Rasim Ozgur Rosti, Joseph G. Gleeson, Umut Altunoglu, Trudy McKanna, Enza Maria Valente, Eugen Boltshauser, Joachim Van Keirsbilck
المساهمون: University of Zurich, Valente, Enza Maria, Human genetics
المصدر: Roosing, S, Romani, M, Isrie, M, Rosti, R O, Micalizzi, A, Musaev, D, Mazza, T, Al-gazali, L, Altunoglu, U, Boltshauser, E, D'Arrigo, S, Keersmaecker, B D, Kayserili, H, Brandenberger, S, Kraoua, I, Mark, P R, McKanna, T, Keirsbilck, J V, Moerman, P, Poretti, A, Puri, R, Esch, H V, Gleeson, J G & Valente, E M 2016, ' Mutations in cep120 cause joubert syndrome as well as complex ciliopathy phenotypes ', Journal of Medical Genetics, vol. 53, no. 9, pp. 608-615 . https://doi.org/10.1136/jmedgenet-2016-103832Test
Journal of Medical Genetics, 53, 608-15
Journal of Medical Genetics
Journal of Medical Genetics, 53(9), 608-615. BMJ Publishing Group
Journal of Medical Genetics, 53, 9, pp. 608-15مصطلحات موضوعية: Male, 0301 basic medicine, Cell Cycle Proteins, Bioinformatics, Ciliopathies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mutation Rate, Cerebellum, Developmental, Eye Abnormalities, Molecular genetics, Child, Genetics (clinical), Exome sequencing, Encephalocele, Genetics, Developmental Defects, Kidney Diseases, Cystic, Orofaciodigital Syndromes, Phenotype, Pedigree, 3. Good health, Medical genetics, Female, 2716 Genetics (clinical), medicine.medical_specialty, 610 Medicine & health, Biology, Retina, Joubert syndrome, 03 medical and health sciences, 1311 Genetics, Cerebellar Diseases, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Amino Acid Sequence, Genetic Testing, Clinical genetics, Meckel syndrome, Genetic Association Studies, Neurosciences, medicine.disease, Ciliopathy, 030104 developmental biology, 10036 Medical Clinic, Mutation, Sequence Alignment
وصف الملف: Print-Electronic; application/pdf; RoosingS_2016.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f94314d27122a0a794b7165e17fbd9eTest
http://www.scopus.com/inward/record.url?scp=84966525869&partnerID=8YFLogxKTest -
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المؤلفون: Antonio Musio, Maria Michela Pallotta, Patrizia Sarogni
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Cornelia de Lange Syndrome, DNA repair, Chromosomal Proteins, Non-Histone, cohesin, Cell Cycle Proteins, therapeutic approaches, SMC1A, Biology, Chromatids, Histone Deacetylases, gene dysregulation, 03 medical and health sciences, 0302 clinical medicine, De Lange Syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Cohesin, Developmental Defects, Genetic disorder, NIPBL, medicine.disease, Phenotype, Cornelia de Lange syndrome, genome instability, DNA-Binding Proteins, Repressor Proteins, 030104 developmental biology, Chondroitin Sulfate Proteoglycans, Mutation, Chromatid, biological phenomena, cell phenomena, and immunity, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9ab2d0f5ef17320c4bb89c4137e662Test
https://pubmed.ncbi.nlm.nih.gov/31704779Test -
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المؤلفون: Katie, Ayers, Rakesh, Kumar, Gorjana, Robevska, Shoni, Bruell, Katrina, Bell, Muneer A, Malik, Ross A, Bathgate, Andrew, Sinclair
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Male, Developmental Defects, RXFP2, Mutation, Missense, familial, Genes, Recessive, undescended testis, Cell Line, Receptors, G-Protein-Coupled, HEK293 Cells, Cryptorchidism, Testis, Humans, exome sequencing, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::92692eb18baaa9884869f2693a9104d6Test
https://pubmed.ncbi.nlm.nih.gov/31167797Test -
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المؤلفون: Mohamed Abouelhoda, John A. Sayer, Maha Alnemer, Dorota Monies, Maha Tulbah, Nada Al-Tassan, Salma Majid, Haya Al-Jurayb, Ahmed Alahmed, Mamdouh Albaqumi, Brian F. Meyer, Nada Alsahan, Dania S. Khalil, Mohamed H Al-Hamed, Basma Al Abdulaziz, Faisal S. BinHumaid, Rania Abudraz, Wesam Kurdi, Mohamed El-Kalioby, Noel Edwards, Asma I. Tahir, Zainab Alabdullah, Rubina Khan, Tariq Faquih
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Heart malformation, Perinatal Death, DNA Mutational Analysis, Saudi Arabia, 030105 genetics & heredity, CC2D2A, 03 medical and health sciences, Cystic kidney disease, Fetus, Pregnancy, Molecular genetics, Genotype, Genetics, Humans, NIMA-Related Kinases, Medicine, Genetics (clinical), Exome sequencing, Cystic kidney, Developmental Defects, business.industry, Infant, Newborn, Proteins, Exons, Syndrome, Kidney Diseases, Cystic, medicine.disease, Ciliopathies, Arabs, Cytoskeletal Proteins, Ciliopathy, 030104 developmental biology, Mutation, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f95f0d1dfcafd00aaf7b2bf67d7639Test
https://doi.org/10.1136/jmedgenet-2015-103469Test -
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المؤلفون: Andrew E. Arai, Vladimir K. Bakalov, Laura J. Olivieri, Douglas R. Rosing, Carolyn A. Bondy, Clara M. Cheng
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Heart Defects, Congenital, Aortic valve, medicine.medical_specialty, Monosomy, Karyotype, Heart Valve Diseases, Turner Syndrome, Aneuploidy, Biology, Aortic Coarctation, Translocation, Genetic, Chromosome Breakpoints, Bicuspid aortic valve, Bicuspid Aortic Valve Disease, Chromosomal, Internal medicine, Turner syndrome, Prevalence, Genetics, medicine, Humans, Developmental, Genetics (clinical), X chromosome, Congenital heart disease, Chromosomes, Human, Pair 14, Chromosomes, Human, X, Developmental Defects, Anatomy, medicine.disease, Phenotype, medicine.anatomical_structure, Pulmonary Veins, Aortic Valve, Chromosomal region, Cardiology, Female, Chromosome Deletion, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5656b19890af3ec11cae937bb80df25Test
https://doi.org/10.1136/jmedgenet-2013-101720Test -
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المؤلفون: Françoise Le Deist, Natalie Patey, Hélène Decaluwe, Youssef Idaghdour, Alan Hodgkinson, Elie Haddad, Sylvie Desjardins, Stéphane Dubois, Marc André Rodrigue, Vincent Raymond, Ferran Casals, Philip Awadalla, Valerie Marchand, Bruno Maranda, Jacek Majewski, Isabelle Gosselin, Najmeh Alirezaie, Mark E. Samuels, Jacques L. Michaud, Isabel Fernandez
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: medicine.medical_specialty, Molecular Sequence Data, Intestinal Atresia, Mutation, Missense, Biology, Compound heterozygosity, Bioinformatics, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Molecular genetics, Ethnicity, Genetics, medicine, Humans, Missense mutation, Developmental, Exome, Amino Acid Sequence, Genetics (clinical), Exome sequencing, 030304 developmental biology, Sanger sequencing, 0303 health sciences, Developmental Defects, Base Sequence, Homozygote, Gastroenterology, Quebec, Proteins, Sequence Analysis, DNA, Exon skipping, Pedigree, 3. Good health, 030220 oncology & carcinogenesis, symbols, Sequence Alignment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1169f4793db5ab6b98bc692ca51acbTest
https://doi.org/10.1136/jmedgenet-2012-101483Test -
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المؤلفون: Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Pathology
المصدر: Journal of Medical Genetics, 54(4), 260-268. BMJ Publishing Group
Journal of Medical Geneticsمصطلحات موضوعية: Developmental Defects, Genome, Human, Exome/whole genome sequencing, High-Throughput Nucleotide Sequencing, Neoplasm Proteins, Craniosynostoses, Predictive Value of Tests, Craniosynostosis, Mutation, Humans, Exome, Genetic Testing, Actionable mutation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0a5b62e65f9954d617b410b39ddc1888Test
http://ora.ox.ac.uk/objects/uuidTest: