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1دورية أكاديمية
المؤلفون: Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, Oded Breuer, Avraham Shaag, Azaria J J T Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
المصدر: PLoS Genetics, Vol 14, Iss 8, p e1007602 (2018)
وصف الملف: electronic resource
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3دورية أكاديميةCCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.
المؤلفون: Amjad Horani, Steven L Brody, Thomas W Ferkol, David Shoseyov, Mollie G Wasserman, Asaf Ta-shma, Kate S Wilson, Philip V Bayly, Israel Amirav, Malena Cohen-Cymberknoh, Susan K Dutcher, Orly Elpeleg, Eitan Kerem
المصدر: PLoS ONE, Vol 8, Iss 8, p e72299 (2013)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Simon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage, Alexis Brice, Albert Taraboulos, Klaus H Kaestner, Lois E Greene, Orly Elpeleg
المصدر: PLoS ONE, Vol 7, Iss 5, p e36458 (2012)
وصف الملف: electronic resource
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5
المؤلفون: null Alistair T. Pagnamenta, null Adam Jackson, null Rahat Perveen, null Glenda Beaman, null Gemma Petts, null Asheeta Gupta, null Zerin Hyder, null Brian Hon‐Yin Chung, null Anita Sik‐Yau Kan, null Ka Wang Cheung, null Wilhelmina S. Kerstjens‐Frederikse, null Kristin M. Abbott, null John C. Ambrose, null Prabhu Arumugam, null Roel Bevers, null Marta Bleda, null Freya Boardman‐Pretty, null Christopher R. Boustred, null Helen Brittain, null Mark J. Caulfield, null Georgia C. Chan, null Greg Elgar, null Tom Fowler, null Adam Giess, null Angela Hamblin, null Shirley Henderson, null Tim J. P. Hubbard, null Rob Jackson, null Louise J. Jones, null Dalia Kasperaviciute, null Melis Kayikci, null Athanasios Kousathanas, null Lea Lahnstein, null Sarah E. A. Leigh, null Ivonne U. S. Leong, null Javier F. Lopez, null Fiona Maleady‐Crowe, null Meriel McEntagart, null Federico Minneci, null Loukas Moutsianas, null Michael Mueller, null Nirupa Murugaesu, null Anna C. Need, null Peter O′Donovan, null Chris A. Odhams, null Christine Patch, null Mariana Buongermino Pereira, null Daniel Perez‐Gil, null John Pullinger, null Tahrima Rahim, null Augusto Rendon, null Tim Rogers, null Kevin Savage, null Kushmita Sawant, null Richard H. Scott, null Afshan Siddiq, null Alexander Sieghart, null Samuel C. Smith, null Alona Sosinsky, null Alexander Stuckey, null Mélanie Tanguy, null Ana Lisa Taylor Tavares, null Ellen R. A. Thomas, null Simon R. Thompson, null Arianna Tucci, null Matthew J. Welland, null Eleanor Williams, null Katarzyna Witkowska, null Suzanne M. Wood, null Orly Elpeleg, null Jenny C. Taylor, null Siddharth Banka, null Asaf Ta‐Shma, null Genomics England Research Consortium
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cardiology, medicine, business, Truncus arteriosus
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::538351116d337271a32222545c4dbf6b
https://doi.org/10.1111/cge.14071/v2/response1 -
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المؤلفون: Gijs W. E. Santen, Damara Ortiz, Elisabeth M. Lodder, Francesca Clementina Radio, Michael V. Airola, Monique C. Haak, Dominic S Zimmerman, Quinn Gunst, Peter de Knijff, Katherine H. Kim, Viktor Stránecký, Stanislav Kmoch, Hiba Mustafa, Dmitriy Niyazov, H. Alex Brown, Najim Lahrouchi, Jamille Y. Robinson, Rick H. de Leeuw, Anne Sophie Denommé-Pichon, Sara Cherny, George A. Tanteles, Mariam Hababa, Joey V. Barnett, Doris Škorić-Milosavljević, Annemiek C. Dutman, Timothy J. Moss, Daniel M. de Laughter, Connie R. Bezzina, Zeev Perles, Fleur V.Y. Tjong, Matthew Ambrose, Forrest Z. Bowling, Arend D. J. ten Harkel, Katelijne Bouman, Barry Wolf, Monia Magliozzi, Asaf Ta-Shma, Lenka Piherová, Aho Ilgun, Sabrina C. Burn, Orly Elpeleg, Michael A. Frohman, Alex V. Postma, Maurice J.B. van den Hoff, Christian M. Salazar, Johanna C. Herkert, Christine Francannet, Jennifer Jacober, Andreas Rousounides, Leander Beekman, Barbara J.M. Mulder, Viktor Tomek, Bruel Ange-Line, Aphrodite Aristidou-Kallika, S. A. Clur, Gwendolyn T. R. Manten
المساهمون: Cardiology, ACS - Heart failure & arrhythmias, Human Genetics, Medical Biology, ACS - Pulmonary hypertension & thrombosis, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Graduate School, APH - Aging & Later Life, APH - Personalized Medicine, Paediatric Cardiology, APH - Amsterdam Public Health
المصدر: CLIN Journal, 131(5):142148. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INCمصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, Heart disease, Heart Valve Diseases, Cardiomyopathy, HEART-DISEASE, PHOSPHOLIPASE-D DEFINES, 03 medical and health sciences, 0302 clinical medicine, DESIGN, Loss of Function Mutation, Phospholipase D, Humans, Medicine, Missense mutation, CRYSTAL-STRUCTURE, Allele frequency, Alleles, Loss function, Genetics, business.industry, GROWTH-FACTOR-BETA, MUTATIONS, INDUCTION, FACTOR-ALPHA, General Medicine, medicine.disease, Phenotype, Ashkenazi jews, TRANSFORMATION, 030104 developmental biology, D1, 030220 oncology & carcinogenesis, Heart failure, Female, business, Research Article
وصف الملف: application/pdf
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7Immune-Mediated Fetal Complete Atrioventricular Block: Can Dexamethasone Therapy Revert the Process?
المؤلفون: Zeev, Perles, Yuval, Ishay, Amiram, Nir, Sagui, Gavri, Julius, Golender, Asaf, Ta-Shma, Ibrahim, Abu-Zahira, Juma, Natsheh, Uriel, Elchalal, Dror, Mevorach, Azaria Jjt, Rein
المصدر: The Israel Medical Association journal : IMAJ. 11(22)
مصطلحات موضوعية: Adult, Fetal Diseases, Treatment Outcome, Pregnancy, Pregnancy Trimester, Second, Prenatal Diagnosis, Infant, Newborn, Humans, Female, Atrioventricular Block, Glucocorticoids, Dexamethasone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cd0d83593ba9817b69636ddeaa0a80b7
https://pubmed.ncbi.nlm.nih.gov/33249793 -
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المؤلفون: Hidetaka Shiratori, Claudius Werner, Kavita Praveen, Stef J.F. Letteboer, Petra Pennekamp, Petras P. Dzeja, Katrin Junger, Inga M. Höben, Franziska Rabert, Friederike Stumme, Julia Wallmeier, Isabella Aprea, Zeev Perles, Erica E. Davis, Judith A. Klinkenbusch, Israel Amirav, Yasin Memari, Yayoi Ikawa, Niki T. Loges, Diana Bracht, Wang Kyaw Twan, Kerstin Bartscherer, Tabea Nöthe-Menchen, Micha Aviram, Yuan Ping Pang, Rim Hjeij, Johanna Raidt, Heike Olbrich, Huda Mussaffi, Katsutoshi Mizuno, Nicola Horn, Timo Strünker, Heymut Omran, Sandra Cindric, Asaf Ta-Shma, Gerard W. Dougherty, Katsuyoshi Takaoka, Marius Ueffing, Thomas Kaiser, Katsura Minegishi, Jörg Große-Onnebrink, Hiroshi Hamada, Jana Gützlaff, Bernd Dworniczak, Luisa Biebach, Samuel M. Young, Orly Elpeleg, Nicholas Katsanis, Karsten Boldt, Takahiro Ide, Ronald Roepman
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Nature Communications, 11
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
Nature Communications
Nature Communications, 11, 1
Nature Communications, 11(1). Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, Axoneme, DNA Mutational Analysis, General Physics and Astronomy, Diseases, Whole Exome Sequencing, chemistry.chemical_compound, Mice, 0302 clinical medicine, Cilia/metabolism, Adenine nucleotide, Loss of Function Mutation, Epididymis/pathology, Sperm Motility/genetics, Axoneme/ultrastructure, lcsh:Science, Tomography, Epididymis, Mice, Knockout, Multidisciplinary, Adenine Nucleotides, Adenine Nucleotides/metabolism, Cilium, CRISPR-Cas Systems/genetics, Microtubule sliding, Middle Aged, Situs Inversus, Respiratory Mucosa/cytology, Cell biology, X-Ray Computed, Asthenozoospermia, Flagella, Sperm Motility, Female, Adenosine monophosphate, Adult, Adolescent, Science, Knockout, Dynein, Adenylate kinase, Respiratory Mucosa, General Biochemistry, Genetics and Molecular Biology, Article, Asthenozoospermia/genetics, 03 medical and health sciences, Exome Sequencing, Planarians/cytology, Genetics, Animals, Humans, Cilia, Cytoskeletal Proteins/deficiency, Situs Inversus/diagnostic imaging, Flagella/metabolism, Animal, General Chemistry, Planarians, Adenosine diphosphate, Cytoskeletal Proteins, Disease Models, Animal, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, Disease Models, lcsh:Q, CRISPR-Cas Systems, Tomography, X-Ray Computed, Adenosine triphosphate, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Hagar Mor-Shaked, Orly Elpeleg, Avraham Shaag, Tamar Harel, Asaf Ta-Shma, Vardiella Meiner, Hagit Daum, Mordechai Shohat, Shira Silverstein
المصدر: American journal of medical genetics. Part AREFERENCES. 182(4)
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Parents, Genotype, 030105 genetics & heredity, Biology, 03 medical and health sciences, Hypoplastic Left Heart Syndrome, Exome Sequencing, Genetics, Humans, Exome, Genetic Predisposition to Disease, Genetic Testing, Receptor, Notch1, Child, Genotyping, Genetics (clinical), Exome sequencing, Epilepsy, Mosaicism, SOXE Transcription Factors, Infant, Newborn, Data interpretation, Grandparent, Penetrance, Grandparents, Repressor Proteins, 030104 developmental biology, Mutation, Female
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المؤلفون: Ann Saada, Sarah Amro, Liza Douiev, Chaya Miller, Asaf Ta-Shma, Maher Shahrour, Orly Elpeleg, Bassam Abu-Libdeh
المصدر: European Journal of Human Genetics. 25:1142-1146
مصطلحات موضوعية: 0301 basic medicine, Mutation, Mitochondrial disease, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Article, 03 medical and health sciences, COX4I1, 030104 developmental biology, 0302 clinical medicine, Mitochondrial respiratory chain, Fanconi anemia, Genetics, medicine, Cancer research, biology.protein, Cytochrome c oxidase, Gene, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing
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