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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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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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4Immune-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: Arcangela Iuso, Nicola A. Grzeschik, Holger Prokisch, Iris Barshack, Muhamad Kumbar, Bart Kanon, Thomas Schwarzmayr, Gal Dubnov-Raz, Dorothea Haas, Riccardo Berutti, Bader Alhaddad, Marit Wiersma, Zeev Perles, Ben Pode-Shakked, Georg F. Hoffmann, Mathias Grigat, Tal Tirosh, Caterina Terrile, Elisa Mastantuono, Tim M. Strom, Jürgen G. Okun, Marina Rubinshtein, Matthias C. Braunisch, Yair Anikster, Shachar Abudi, Camilla Avivi, Ana C. Messias, Amir Vardi, Brundel Bianca Johanna Josephina Maria, Ody C. M. Sibon, Eran Eyal, Dina Marek-Yagel, Tobias B. Haack, Yishay Salem, Thomas Meitinger, A Volkov, Ortal Barel, Hans Joachim Schüller
المساهمون: Molecular Neuroscience and Ageing Research (MOLAR), Movement Disorder (MD), Physiology, ACS - Heart failure & arrhythmias
المصدر: American Journal of Human Genetics, 102(6), 1018-1030. CELL PRESS
Am. J. Hum. Genet. 102, 1018-1030 (2018)
The American Journal of Human Genetics
Iuso, A, Wiersma, M, Schüller, H J, Pode-Shakked, B, Marek-Yagel, D, Grigat, M, Schwarzmayr, T, Berutti, R, Alhaddad, B, Kanon, B, Grzeschik, N A, Okun, J G, Perles, Z, Salem, Y, Barel, O, Vardi, A, Rubinshtein, M, Tirosh, T, Dubnov-Raz, G, Messias, A C, Terrile, C, Barshack, I, Volkov, A, Avivi, C, Eyal, E, Mastantuono, E, Kumbar, M, Abudi, S, Braunisch, M, Strom, T M, Meitinger, T, Hoffmann, G F, Prokisch, H, Haack, T B, Brundel, B J J M, Haas, D, Sibon, O C M & Anikster, Y 2018, ' Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy ', American journal of human genetics, vol. 102, no. 6, pp. 1018-1030 . https://doi.org/10.1016/j.ajhg.2018.03.022
American journal of human genetics, 102(6), 1018-1030. Cell Pressمصطلحات موضوعية: Male, 0301 basic medicine, Neurodegeneration with brain iron accumulation, COENZYME-A SYNTHESIS, chemistry.chemical_compound, 0302 clinical medicine, Enzyme Stability, PANTETHINE RESCUES, Phosphopantothenoylcysteine synthetase, Peptide Synthases, Genetics (clinical), Exome sequencing, 2. Zero hunger, chemistry.chemical_classification, biology, Coenzyme A, Dilated Cardiomyopathy, Pantethine Treatment, Pentothenate, Phospohopantothenoylcysteine Synthetase, Ppcs, Pantethine, Homozygote, Neurodegeneration, NEURODEGENERATION, High-Throughput Nucleotide Sequencing, Heart, Magnetic Resonance Imaging, Pedigree, Biochemistry, ESCHERICHIA-COLI, Child, Preschool, Pantetheine, Drosophila, Female, PROTEIN-STRUCTURE, Cardiomyopathy, Dilated, COA, Genes, Recessive, Saccharomyces cerevisiae, Article, Cofactor, 03 medical and health sciences, BRAIN IRON ACCUMULATION, Carnitine, Genetics, medicine, Animals, Humans, Amino Acid Sequence, MACROMOLECULES, Demography, Infant, Newborn, Infant, Reproducibility of Results, Fibroblasts, medicine.disease, Biosynthetic Pathways, SWISS-MODEL, 030104 developmental biology, Enzyme, chemistry, Mutation, biology.protein, SYSTEM, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3fe09634366ceea231486e183784a57
http://www.scopus.com/inward/record.url?scp=85046776501&partnerID=8YFLogxK -
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المؤلفون: Asaf Ta-Shma, Aaron M. Neiman, Kai Zhang, Ekaterina Salimova, Orly Elpeleg, Alma Zernecke, Milena B. Furtado, Azaria J.J.T. Rein, Daniel Sieiro-Mosti, Avraham Shaag, Bernhard Nieswandt, Nadia Rosenthal, David Stegner, Zeev Perles
المصدر: Journal of Medical Genetics. 54:278-286
مصطلحات موضوعية: 0301 basic medicine, Regulation of gene expression, Mutation, Pathology, medicine.medical_specialty, Right atrial enlargement, Anatomy, Biology, medicine.disease, medicine.disease_cause, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Knockout mouse, Genetics, Homologous chromosome, medicine, Mitral valve prolapse, Ventricular outflow tract, medicine.symptom, 030217 neurology & neurosurgery, Genetics (clinical)
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المؤلفون: Pawel Stankiewicz, Tamir Dagan, Joel Reiter, Przemyslaw Szafranski, Zeev Perles, Oded Breuer, Eitan Kerem
المصدر: Pediatric Pulmonology. 51:921-927
مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Proband, Sanger sequencing, Alveolar capillary dysplasia, Genetics, business.industry, medicine.disease, Pulmonary hypertension, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, Pediatrics, Perinatology and Child Health, symbols, medicine, Missense mutation, Haploinsufficiency, business, Exome, Exome sequencing
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المؤلفون: Zeev Perles, Eyal Shteyer, Malena Cohen-Cymberknoh, Eitan Kerem, Oded Breuer, David Shoseyov, Michael Wilschanski
المصدر: Chest. 149:e35-e38
مصطلحات موضوعية: Liver Cirrhosis, Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, Cystic Fibrosis, Critical Care and Intensive Care Medicine, Chronic liver disease, Cystic fibrosis, Gastroenterology, Hypoxemia, Diagnosis, Differential, Lung Disorder, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Forced Expiratory Volume, Internal medicine, Humans, Medicine, intrapulmonary vascular shunt, Hepatopulmonary syndrome, hypoxia, business.industry, portal hypertension, medicine.disease, eye diseases, 030228 respiratory system, Portal hypertension, 030211 gastroenterology & hepatology, medicine.symptom, Differential diagnosis, liver disease, Tomography, X-Ray Computed, Cardiology and Cardiovascular Medicine, business, Hepatopulmonary Syndrome
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المؤلفون: Sungjin Moon, Barak Yaacov, Ludmila Francescatto, Azaria J.J.T. Rein, Nicholas Katsanis, Asaf Ta-Shma, Simon Edvardson, Zeev Perles, Orly Elpeleg
المصدر: Journal of Medical Genetics. 52:840-847
مصطلحات موضوعية: Male, Candidate gene, DNA Mutational Analysis, Notch signaling pathway, Heterotaxy Syndrome, Biology, medicine.disease_cause, Article, Consanguinity, Young Adult, Matrix Metalloproteinases, Secreted, Genetics, medicine, Animals, Humans, Missense mutation, Exome, Child, Zebrafish, Genetics (clinical), Exome sequencing, Sequence Deletion, Mutation, Base Sequence, Receptors, Notch, Lateral plate mesoderm, Homozygote, biology.organism_classification, Pedigree, Female, Heterotaxy, Signal Transduction
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