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المؤلفون: Ine Tavano, Bart De Keersmaecker, Michael Aertsen, Luc De Catte
المصدر: The Journal of Maternal-Fetal & Neonatal Medicine. 35:4976-4984
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Prenatal diagnosis, Cleavage (embryo), Ultrasonography, Prenatal, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Holoprosencephaly, Pregnancy, Prenatal Diagnosis, medicine, Humans, Genetic Testing, 030212 general & internal medicine, business.industry, Infant, Obstetrics and Gynecology, medicine.disease, Pregnancy Trimester, First, Pregnancy Trimester, Second, Pediatrics, Perinatology and Child Health, Female, business
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المؤلفون: Ganesh Acharya, Michael Aertsen, Yalda Afshar, Cande V. Ananth, Michael Ashworth, Patrick Au, Spyros Bakalis, Guillaume Benoist, Colleen G. Bilancia, Caterina M. Bilardo, Louise D. Bryant, Colin R. Butler, Frank Van Calenbergh, Steve N. Caritis, Lyn S. Chitty, Patricia Collins, James Cook, Howard Cuckle, Anna L. David, Luc De Catte, Paolo De Coppi, Elisabeth de Jong-Pleij, Bart De Keersmaecker, Jan Deprest, Roland Devlieger, Guido M. de Wert, Jan E. Dickinson, Mark Dilworth, Wybo J. Dondorp, Caroline E. Dunk, Thomas R. Everett, Jane Fisher, Henry L. Galan, Mythily Ganapathi, Helena M. Gardiner, Cecilia Gotherstrom, Richard Harding, Jenny Hewison, Richard J. Hewitt, Liran Hiersch, Melissa Hill, Sara L. Hillman, An Hindryckx, Stuart B. Hooper, Berthold Huppertz, J. Ciaran Hutchinson, Jon Hyett, Luc Joyeux, Davor Jurkovic, John C. Kingdom, Sylvie Langlois, Lara S. Lemon, Marianne Leruez-Ville, Liesbeth Lewi, Brynn Levy, Y.W. Loke, Enrico Lopriore, George A. Macones, Fergal D. Malone, Anahit Martirosian, Fionnuala McAuliffe, Annie R.A. McDougall, Kenneth J. Moise, Ashley Moffett, Sieglinde M. Müllers, Ran Neiger, John P. Newnham, Sarah G. Obican, Anthony O. Odibo, Dick Oepkes, Pranav P. Pandya, Lawrence D. Platt, Rosalind Pratt, Kuhan Rajah, Rashmi Rao, Jute Richter, Joshua I. Rosenbloom, Francesca Maria Russo, Anthony R. Scialli, Neil J. Sebire, Andrew Sharkey, Susan C. Shelmerdine, Colin Sibley, Saul Snowise, Sylke Steggerda, Emily J. Su, Mary Tang, Arjan B. Te Pas, Alan T. Tita, Fred Ushakov, Ignatia B. Van den Veyver, Jeanine M. van Klink, Raman Venkataramanan, Yves Ville, Magdalena Walkiewicz, Colin Wallis, Lilian Walther-Jallow, Ronald J. Wapner, Magnus Westgren, Scott W. White, Louise C. Wilson, R. Douglas Wilson, Dian Winkelhorst, Paul J.D. Winyard, Christoph Wohlmuth, Karen Wou, Yuval Yaron, Kwok Yin Leung, Angela Yulia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c03f54a89a74b36d0e76819af190723
https://doi.org/10.1016/b978-0-7020-6956-7.01002-2 -
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المؤلفون: Bart De Keersmaecker, Luc Joyeux, Luc De Catte, Michael Aertsen
المصدر: Fetal Medicine ISBN: 9780702069567
Fetal Medicineمصطلحات موضوعية: Fetus, Pathology, medicine.medical_specialty, medicine.anatomical_structure, business.industry, Central nervous system, Medicine, business
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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-2016-103832
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
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مصطلحات موضوعية: medicine.medical_specialty, Fetus, medicine.diagnostic_test, business.industry, Prenatal diagnosis, Magnetic resonance imaging, medicine.disease, Surgery, Natural history, Arachnoid cyst, medicine, Cyst, Radiology, business, Intracranial pressure, Ventriculomegaly
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::214ddf643cc5847eef2e963b86df5ac1
https://doi.org/10.1016/b978-0-12-809932-2.00015-6 -
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المؤلفون: Michael Aertsen, María-José Almagro, Magnus Berle, Nikolas Boy, Christos Chamilos, Luc De Catte, Bart De Keersmaecker, Emilio González-Martínez, Christian A. Helland, Katrien Jansen, Bengt R. Johansson, Stefan Kölker, Antonio L. López-Guerrero, Juan F. Martínez-Lage, Claudio Piqueras, Katrin Rabiei, David Santamarta, Spyridon Sgouros, Liesbeth Thewissen, Frank Weber, Knut Wester, Johan Wikström
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af75d22a97e0bc902fbc8fad046b0a12
https://doi.org/10.1016/b978-0-12-809932-2.00022-3 -
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مصطلحات موضوعية: 0301 basic medicine, Genetics, medicine.medical_specialty, Centriole, Locus (genetics), Biology, Audiology, Compound heterozygosity, medicine.disease, 03 medical and health sciences, Dysgenesis, 030104 developmental biology, Holoprosencephaly, Centrosome, medicine, Original Article, Gyrification, Genetics (clinical), Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3941ec7d857755a3dd40d337d077061
https://europepmc.org/articles/PMC5701267/ -
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المؤلفون: Filip Claus, Luc De Catte, Philippe Moerman, Hilde Van Esch, Dominique Van Schoubroeck, Bart De Keersmaecker
المصدر: Prenatal Diagnosis. 33:292-295
مصطلحات موضوعية: Fetus, medicine.medical_specialty, Pathology, Polydactyly, business.industry, Obstetrics and Gynecology, Prenatal diagnosis, medicine.disease, Endocrinology, Recessive inheritance, MPPH syndrome, Internal medicine, medicine, Etiology, Polymicrogyria, Megalencephaly, business, Genetics (clinical)
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المؤلفون: Bart, De Keersmaecker, Hilde, Van Esch, Dominique, Van Schoubroeck, Filip, Claus, Philippe, Moerman, Luc, De Catte
المصدر: Prenatal diagnosis. 33(3)
مصطلحات موضوعية: Adult, Malformations of Cortical Development, Polydactyly, Pregnancy, Prenatal Diagnosis, Humans, Female, Magnetic Resonance Imaging, Hydrocephalus, Ultrasonography
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المصدر: Gynecologic and obstetric investigation. 73(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Streptococcus pyogenes, medicine.medical_treatment, Decision Making, Postpartum Hysterectomy, medicine.disease_cause, Hysterectomy, Group A, Infant, Newborn, Diseases, Pregnancy, Streptococcal Infections, medicine, Humans, Pregnancy Complications, Infectious, Creatine Kinase, biology, Streptococcus, Obstetrics, business.industry, Postpartum Period, Infant, Newborn, Obstetrics and Gynecology, Toxic shock syndrome, medicine.disease, Combined Modality Therapy, Respiration, Artificial, Shock, Septic, Anti-Bacterial Agents, Reproductive Medicine, Shock (circulatory), Immunology, biology.protein, Creatine kinase, Female, Laparoscopy, medicine.symptom, business, Endometritis, Biomarkers
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