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1
المؤلفون: Leonid Aksenov, Kevin Hobbs, Rebecca Fairchild, Rohit Tejwani, John Wiener, Jonathan Routh
المصدر: Journal of Urology. 207
مصطلحات موضوعية: Urology
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2
المؤلفون: Tahir N. Khan, Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, Shahid M. Baig, Erica E. Davis, Nicholas Katsanis, Alexander Allori, Misha Angrist, Patricia Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Sarah Ellestad, Kimberley Fisher, Amanda French, William Gallentine, Ronald Goldberg, Kevin Hill, Sujay Kansagra, Sara Katsanis, Joanne Kurtzberg, Jeffrey Marcus, Marie McDonald, Mohammed Mikati, Stephen Miller, Amy Murtha, Carolyn Pizoli, Todd Purves, Sherry Ross, Edward Smith, John Wiener
المصدر: The American Journal of Human Genetics. 104:94-111
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Microcephaly, Chromosomal Proteins, Non-Histone, Biology, 03 medical and health sciences, 0302 clinical medicine, Nephronophthisis, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Child, Zebrafish, Genetics (clinical), Adaptor Proteins, Signal Transducing, Adenosine Triphosphatases, Infant, Newborn, Genetic disorder, Infant, Membrane Proteins, Syndrome, Zebrafish Proteins, medicine.disease, biology.organism_classification, Phenotype, Pedigree, DNA-Binding Proteins, Cytoskeletal Proteins, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Multiprotein Complexes, Premature chromosome condensation, Mutation, Female, Limb morphogenesis, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bff7d2b35625122fe7ddf1f6b526f5a
https://doi.org/10.1016/j.ajhg.2018.11.017 -
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المؤلفون: Ulrike Philippar, Lorena Fontan, Ivo Cornelissen, Haopeng Rui, Sriram Balasubramanian, Marcello Gaudiano, Mariette Bekkers, Luc Van Nuffel, Tianbao Lu, John Wiener, Mark Tichenor, Tony Greway, Kathryn Packman, Bie Verbist, Yusri Elsayed, Ricardo Attar, Jacqueline Bussolari, John Gerecitano
المصدر: Cancer Research. 81:1267-1267
مصطلحات موضوعية: Cancer Research, biology, Combination therapy, CD3, breakpoint cluster region, medicine.disease, Lymphoma, chemistry.chemical_compound, medicine.anatomical_structure, Oncology, chemistry, hemic and lymphatic diseases, biology.protein, medicine, Cancer research, Bruton's tyrosine kinase, Growth inhibition, Tyrosine kinase, B cell
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7f55cce1586407af620b6db9d9bf1555
https://doi.org/10.1158/1538-7445.am2021-1267 -
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المؤلفون: M. Chad Wallis, Pangaja Paramsothy, Judy Thibadeau, Jonathan Routh, David Joseph, Earl Cheng, Duong Tu, Chris Austin, Chester Koh, Paul Austin, Stacy Tanaka, William Walker, Kathy Smith, Michelle Baum, John Wiener
المصدر: Journal of Urology. 199
مصطلحات موضوعية: Urology
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5
المؤلفون: Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford, Alexander Allori, Misha Angrist, Patricia Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Sarah Ellestad, Kimberley Fisher, Amanda French, William Gallentine, Ronald Goldberg, Kevin Hill, Sujay Kansagra, Sara Katsanis, Joanne Kurtzberg, Jeffrey Marcus, Marie McDonald, Mohammed Mikati, Stephen Miller, Amy Murtha, Yezmin Perilla, Carolyn Pizoli, Todd Purves, Sherry Ross, Edward Smith, John Wiener
المصدر: American Journal of Human Genetics, 103, 666-678
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, 103, 5, pp. 666-678
American journal of human genetics, vol 103, iss 5مصطلحات موضوعية: Male, 0301 basic medicine, Movement disorders, Task Force for Neonatal Genomics, Contracture/genetics, Neurodegenerative, Bioinformatics, Neurodevelopmental Disorders/genetics, Infantile, Medical and Health Sciences, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Epilepsy/genetics, Spasms, Epilepsy, Spasms, Infantile/genetics, 0302 clinical medicine, R-Type, 2.1 Biological and endogenous factors, Megalencephaly, Aetiology, Child, Cation Transport Proteins, Genetics (clinical), Pediatric, Genetics & Heredity, Arthrogryposis, 0303 health sciences, Voltage-dependent calcium channel, Epileptic encephalopathy, Deciphering Developmental Disorders Study, Biological Sciences, Hypotonia, 3. Good health, CACNA1E, Genetic Variation/genetics, Child, Preschool, Neurological, Female, Megalencephaly/genetics, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Contracture, Adolescent, Dyskinesias/genetics, Biology, Article, arthrogryposis, 03 medical and health sciences, Genetics, medicine, Humans, Preschool, Calcium Channels, R-Type/genetics, 030304 developmental biology, Muscle contracture, Dyskinesias, business.industry, Calcium channel, Cation Transport Proteins/genetics, Neurosciences, Macrocephaly, Genetic Variation, Correction, Infant, medicine.disease, Human genetics, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, ion channel, calcium channel, Calcium Channels, business, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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6دورية أكاديمية
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7
المؤلفون: Joel Krivy, John Wiener
المصدر: The Lancet. 345:132
مصطلحات موضوعية: medicine.medical_specialty, Sertraline, Purpura, business.industry, medicine, Platelet, General Medicine, medicine.symptom, business, Dermatology, Idiopathic thrombocytopenia purpura, medicine.drug
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8
المؤلفون: John Wiener, Sidney H. Kennedy
المصدر: Journal of Clinical Psychopharmacology. 5:231
مصطلحات موضوعية: Clomipramine, Methylphenidate, Hypoestrogenism, medicine.disease, behavioral disciplines and activities, Dysphoria, Psychiatry and Mental health, Mood, Oral administration, Anesthesia, medicine, Pharmacology (medical), medicine.symptom, Psychology, Conversion disorder, Depression (differential diagnoses), medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::489902d757a0aa6d6d0e2e0f20608e8e
https://doi.org/10.1097/00004714-198508000-00008
