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المؤلفون: RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay‐Aygun
المصدر: Am J Med Genet C Semin Med Genet
مصطلحات موضوعية: Adult, Male, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Article, Retina, Cerebellum, Genetics, Humans, Muscle Hypotonia, Abnormalities, Multiple, Female, Eye Abnormalities, Child, Physical Examination, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51deaad35ee307542c96f454a29d3d4Test
https://doi.org/10.1002/ajmg.c.31966Test -
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المؤلفون: Paul T. Wingfield, Yuri V. Sergeev, Monika B. Dolinska, Brian P. Brooks, S. Katie Farney, Nicole J. Kus
المصدر: Pigment Cell & Melanoma Research. 30:41-52
مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Protein Folding, Low protein, Protein Conformation, Tyrosinase, Mutant, Mutagenesis (molecular biology technique), Dermatology, Biology, Article, Catalysis, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Protein purification, medicine, Humans, Monophenol Monooxygenase, Wild type, medicine.disease, Molecular biology, Oculocutaneous albinism, Recombinant Proteins, 030104 developmental biology, Oncology, Biochemistry, Albinism, Oculocutaneous, 030220 oncology & carcinogenesis, Mutation, Albinism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb4dab5e9ccc5c8ff7727c31ec3e130Test
https://doi.org/10.1111/pcmr.12546Test -
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المؤلفون: Brian P. Brooks, Jennifer Boyle, Melissa A. Merideth, Roxana Moslehi, Margaret A. Tucker, Sikandar G. Khan, Kyu Seon Oh, John J. DiGiovanna, Takahiro Ueda, Deborah Tamura, Kenneth H. Kraemer, Alisa M. Goldstein, Xiaolong Zhou
المصدر: Prenatal Diagnosis. 31:1046-1053
مصطلحات موضوعية: Pregnancy, medicine.medical_specialty, business.industry, Obstetrics, HELLP syndrome, Birth weight, Trichothiodystrophy, Obstetrics and Gynecology, Gestational age, medicine.disease, Preeclampsia, Low birth weight, Fetal distress, Medicine, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8c7c867578af058c6e69e375c6de05f5Test
https://doi.org/10.1002/pd.2829Test -
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المؤلفون: Beth Solomon, Maria Rita Passos Bueno, Elaine H. Zackai, Carol Knightly, Fernanda Sarquis Jehee, Donald W. Hadley, Donna M. McDonald-McGinn, Demetrio L. Domingo, Maximilian Muenke, R. Brian Lowry, Kenneth N. Rosenbaum, Thomas C. Hart, H. Jeff Kim, Alan L. Shanske, Christopher K. Zalewski, Carmen C. Brewer, Brian P. Brooks, Emily S Doherty, Virginia Kimonis, Felicitas Lacbawan, La Donna Immken
المصدر: American Journal of Medical Genetics Part A. :3204-3215
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Hearing loss, Developmental Disabilities, Hearing Loss, Sensorineural, Genetic counseling, Speech Disorders, Craniosynostosis, Muenke syndrome, Craniosynostoses, Sex Factors, Audiometry, Genetics, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Genetics (clinical), Aged, business.industry, Infant, Dysostosis, Syndrome, Anatomy, Synostosis, medicine.disease, Penetrance, Pedigree, Phenotype, Child, Preschool, Mutation, Speech delay, Female, medicine.symptom, Tomography, X-Ray Computed, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5721bf66ef2dd8f21aba8e345df17daTest
https://doi.org/10.1002/ajmg.a.32078Test -
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المؤلفون: Brian P. Brooks, Halima Goodwin, Forbes D. Porter
المصدر: American Journal of Medical Genetics Part A. :208-211
مصطلحات موضوعية: medicine.medical_specialty, genetic structures, business.industry, Eye disease, Infant, Cataract formation, medicine.disease, Cataract, eye diseases, Smith-Lemli-Opitz Syndrome, Hypocholesterolemia, Endocrinology, Cataracts, Smith–Lemli–Opitz syndrome, Ophthalmology, Internal medicine, Genetics, Congenital cataracts, Humans, Medicine, sense organs, Capsular fibrosis, business, Pathological, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4923fb131451124c5b84d0b7bc280f82Test
https://doi.org/10.1002/ajmg.a.32084Test -
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المؤلفون: Thalia Bei, Maya Tuchman, Jean-Pierre Chanoine, Sotirios Stergiopoulos, C Stuart, Stylianos Tsagarakis, Constantine A. Stratakis, B Bjornson, Robert Kleta, L Russell, LR Kalsner, Brian P. Brooks, A Jeong
المصدر: Clinical Genetics. 68:215-221
مصطلحات موضوعية: Genetics, Allgrove Syndrome, business.industry, Genetic heterogeneity, macromolecular substances, Triple-A syndrome, medicine.disease, environment and public health, Alacrima, Phenotype, enzymes and coenzymes (carbohydrates), Genotype, cardiovascular system, medicine, Adrenal insufficiency, cardiovascular diseases, Allele, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5446192122a0cc83358d3dc360302ef2Test
https://doi.org/10.1111/j.1399-0004.2005.00482.xTest -
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المؤلفون: Henry L. Paulson, Diane E. Merry, Dennis L. Kolson, Brian P. Brooks, Kenneth H. Fischbeck, Andrew P. Lieberman
المصدر: Journal of Neurochemistry. 70:1054-1060
مصطلحات موضوعية: DNA, Complementary, Cell Survival, medicine.drug_class, Population, Cell Culture Techniques, Hybrid Cells, Biology, Transfection, urologic and male genital diseases, Biochemistry, Gene Expression Regulation, Enzymologic, Choline O-Acetyltransferase, Cellular and Molecular Neuroscience, Neurofilament Proteins, medicine, Humans, Testosterone, education, Motor Neurons, education.field_of_study, Neurodegeneration, Motor neuron, Androgen, medicine.disease, Culture Media, Androgen receptor, Spinal and bulbar muscular atrophy, Phenotype, medicine.anatomical_structure, nervous system, Receptors, Androgen, Cell culture, Nerve Degeneration, Microtubule-Associated Proteins, Neuroscience, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae6cd2b64dd575eaf1a249fcb7edfa3Test
https://doi.org/10.1046/j.1471-4159.1998.70031054.xTest -
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المؤلفون: Sumalee Chumpradit, Mei-Ping Kung, Catherine Foulon, Alan Frazer, Shanaz M. Tejani-Butt, Hank F. Kung, Stephen A. Szabo, V. Prapansiri, C. Panyachotipun, Brian P. Brooks
المصدر: ChemInform. 24
مصطلحات موضوعية: Stereochemistry, Chemistry, chemistry.chemical_element, General Medicine, Iodine, Norepinephrine uptake, Norepinephrine, chemistry.chemical_compound, Monoamine neurotransmitter, Membrane, medicine, Stereoselectivity, Serotonin, medicine.drug, Methyl group
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::183e2a61b11ce92781a7d7a105523995Test
https://doi.org/10.1002/chin.199321256Test -
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المصدر: Journal of Neurochemistry. 57:729-737
مصطلحات موضوعية: Agonist, Cellular and Molecular Neuroscience, Chemistry, Stereochemistry, medicine.drug_class, Antagonist, medicine, Molecule, Biological activity, Pharmacology, Receptor, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6ebc06b40f173468aa63a73df9422d24Test
https://doi.org/10.1111/j.1471-4159.1991.tb08213.xTest -
10دورية أكاديمية
المؤلفون: Jeffrey R. Buchhalter, Morris H. Scantlebury, Sabrina D’Alfonso, Juan Pablo Appendino, Luis Bello Espinosa, Brian L. Brooks, Curtis Claassen, Jane Corbeil, David Czank, Stafford Dean, Alice W. Ho, Julia Jacobs, Maarit Mackay, Joka McMahon, Aleksandra Mineyko, Jong M. Rho, Trina Roberts, Sonia Rothenmund, Gary Ruta, Tyson Sawchuk, Brett A. Simms, Kim Smyth, Tammy Still, Nancy Thornton
المصدر: Epilepsia Open, Vol 6, Iss 2, Pp 345-358 (2021)
مصطلحات موضوعية: electronic health record, epilepsy, EHR, informatics, QI, quality improvement, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2470-9239Test