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1دورية أكاديمية
المؤلفون: Daniel Reich, Amanda Openshaw, Michele Garcia, Inder Gadi, Madelena Martin, Hiba Risheg, Bo Hong
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100591- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423005915Test; https://doaj.org/toc/2949-7744Test
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المؤلفون: Christina Ashburner, Arthur D’Harlingue, Rosanna Spicer, Suma P. Shankar, Shimul Chowdhury, Juliette Hunt, David Dimmock, Katarzyna A. Ellsworth, Neda Zadeh, Bryce Waldman, Lauge Farnaes, Wendy Benson, Madelena Martin, Jason Knight, Sara A. Caylor, Ofelia Vargas-Shiraishi, Aaina Kochhar, Mario Augusto Rojas, Charlotte A. Hobbs, Priscilla Joe, Katherine A. Rauen, Maries Joseph, Kathleen Houtchens, Richard Kronick, Ami Doshi, Adam Schwarz, Stephen F. Kingsmore, Carolina I. Galarreta, Jason Carmichael, Jolie Limon, Elaine Cham, Robert H. Kaplan, Jeanne Carroll, Kristen Wigby, John P. Cleary
المصدر: American journal of human genetics, vol 108, iss 7
Am J Hum Genetمصطلحات موضوعية: Male, 0301 basic medicine, Comparative Effectiveness Research, Quality management, 030105 genetics & heredity, Medical and Health Sciences, Tertiary care, California, quality improvement, Cohort Studies, Cost of Illness, neonatal intensive care, Prospective Studies, Economic impact analysis, Precision Medicine, Genetics (clinical), Pediatric, Genetics & Heredity, Health Services, Biological Sciences, Hospitals, Pediatric, Hospitals, Treatment Outcome, Female, health outcomes research, Medical emergency, Critical Care, pediatrics, Critical Illness, Clinical Trials and Supportive Activities, Comparative effectiveness research, rare disease, QUALY, Article, 03 medical and health sciences, genetic disease, Clinical Research, Intensive care, Genetics, medicine, Humans, quality-adjusted life years, Whole Genome Sequencing, Medicaid, business.industry, Infant, Newborn, Infant, Newborn, medicine.disease, Precision medicine, United States, Quality-adjusted life year, Good Health and Well Being, 030104 developmental biology, MediCal, real-world care, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a195984a6ab40c8a7ab4e62f2b4ffadaTest
https://doi.org/10.1016/j.ajhg.2021.05.008Test -
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المؤلفون: Stacey Cole, Alena Egense, Ayaka Suzuki, Madelena Martin, Colette DeFilippo, Katherine Rauen, Suma Shankar
المصدر: Genetics in Medicine. 24:S66-S67
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::226e557781c3356a363e61c48882660aTest
https://doi.org/10.1016/j.gim.2022.01.139Test -
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المؤلفون: Jennifer L. Kane, Madelena Martin, Beverly N. Hay, Riley McLean, Karen Wiss, Stephanie Petkiewicz, Kristen G Berrebi
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hair shaft, Case Report, Case Reports, 030207 dermatology & venereal diseases, 03 medical and health sciences, trichorrhexis nodosa, 0302 clinical medicine, Medicine, Noonan syndrome with loose anagen hair, cardiovascular diseases, skin and connective tissue diseases, integumentary system, business.industry, Trichorrhexis nodosa, Loose anagen hair, General Medicine, medicine.disease, Dermatology, body regions, 030104 developmental biology, Trichoptilosis, Mutation (genetic algorithm), Noonan syndrome, sense organs, medicine.symptom, business, trichoptilosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e904e58d2a8b56a3f867f2b7e7a80ffTest
http://europepmc.org/articles/PMC5494382Test -
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المؤلفون: Rebecca Droms, Madelena Martin, Jillian F. Rork, Leah Belazarian, Karen Wiss, Riley McLean
المصدر: Pediatric dermatology. 34(3)
مصطلحات موضوعية: Child abuse, Male, Pediatrics, medicine.medical_specialty, Fractures, Multiple, Long bone, Dermatology, Risk Assessment, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child Abuse, Multiple fractures, Menkes Kinky Hair Syndrome, business.industry, Infant, medicine.disease, Subdural Hematomas, Radiography, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Wormian bones, Menkes disease, Presentation (obstetrics), business, Copper deficiency, Emergency Service, Hospital, 030217 neurology & neurosurgery, Infant, Premature, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a03523ab826df859073d9a852ae5fc6Test
https://pubmed.ncbi.nlm.nih.gov/28318055Test -
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المصدر: American journal of medical genetics. Part A. 176(1)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Contracture, Apraxias, 030105 genetics & heredity, Intellectual delay, 03 medical and health sciences, Atrophy, Genetics, medicine, Humans, Genetic Testing, WIEACKER-WOLFF SYNDROME, Genetics (clinical), Genetic Association Studies, Genetic testing, Chromosomes, Human, X, Ophthalmoplegia, medicine.diagnostic_test, business.industry, Intracellular Signaling Peptides and Proteins, Facies, Nuclear Proteins, Genetic Diseases, X-Linked, medicine.disease, Pedigree, Cleft Palate, Female individual, Muscular Atrophy, 030104 developmental biology, Phenotype, Child, Preschool, Mutation, Medical genetics, Female, Congenital contracture, business, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d55205718ed4aba5f45f544b0c498e0Test
https://pubmed.ncbi.nlm.nih.gov/29150902Test -
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المؤلفون: Arturo Borzutzky, Anke K. Bergmann, Brian D. Crompton, Silvia Giliani, Sachin N. Baxi, Madelena Martin, Luigi D. Notarangelo, Ellis J. Neufeld
المصدر: Clinical Immunology. 133:287-294
مصطلحات موضوعية: Male, Cellular immunity, Anemia, T-Lymphocytes, Lymphocyte, Immunology, Leucovorin, Biology, Polymerase Chain Reaction, Article, Immunophenotyping, Hypogammaglobulinemia, Folic Acid, medicine, Humans, Point Mutation, Immunology and Allergy, Immunodeficiency, Severe combined immunodeficiency, Base Sequence, Genetic Variation, Infant, Membrane Transport Proteins, DNA, Normocytic anemia, Flow Cytometry, medicine.disease, medicine.anatomical_structure, Intestinal Absorption, Inborn error of metabolism, Female, Severe Combined Immunodeficiency, Proton-Coupled Folate Transporter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b927e832b9101dc4a602fe0c80e520aTest
https://doi.org/10.1016/j.clim.2009.08.006Test -
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المؤلفون: Louanne Hudgins, Bruce Blumberg, Margaret P Adam, Kim M. Keppler-Noreuil, John Graham, Renata C. Gallagher, Susan Schelley, Joseph T. Shieh, April N. Brady, Madelena Martin, Kimberly Barr, Anne Slavotinek, Andrea L. Storm
المصدر: American Journal of Medical Genetics Part A. :2730-2741
مصطلحات موضوعية: Adult, Male, Microcephaly, medicine.medical_specialty, Pediatrics, Adolescent, Mowat–Wilson syndrome, Pulmonary Artery, Craniofacial Abnormalities, Seizures, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Language Development Disorders, Hirschsprung Disease, Hypertelorism, Child, Agenesis of the corpus callosum, Genetics (clinical), Zinc Finger E-box Binding Homeobox 2, Homeodomain Proteins, business.industry, Incidence (epidemiology), Infant, Newborn, Infant, Syndrome, Pulmonary artery sling, medicine.disease, Repressor Proteins, Endocrinology, Hypospadias, Child, Preschool, Female, Agenesis of Corpus Callosum, medicine.symptom, business, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4524de4d24ba620c68aabef3d6adce7Test
https://doi.org/10.1002/ajmg.a.31530Test -
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المؤلفون: Chanika Phornphutkul, Madelena Martin, J. Bailey, David A. Sweetser, Roger B. Eaton, Edward G. Neilan, Thomas H. Zytkovicz, Harvey L. Levy, Philip James, Inderneel Sahai, Cheryl Garganta
المصدر: JIMD Reports ISBN: 9783642541483
مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, New england, Vlbw infants, business.industry, Glutaric aciduria, Medicine, Tandem mass spectrometry, business, Article, Urine organic acids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1242f3e002f661eff96e91d927fc7068Test
https://doi.org/10.1007/8904_2013_262Test -
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المؤلفون: Lisa Diantonio, Madelena Martin, Salvatore Duva, Enid Rivera, Ndeye Diop-Bove, I. David Goldman, Sonia I. Ramirez, Pedro J. Santiago-Borrero, Kris Michael Mahadeo, Carmen L. Cadilla, Norma B. Lerner
مصطلحات موضوعية: Physiology, Gene mutation, Article, Folic Acid, Malabsorption Syndromes, medicine, Humans, Genetic Testing, Allele, Gene, Genetic testing, Genetics, Newborn screening, medicine.diagnostic_test, business.industry, Genetic Carrier Screening, Homozygote, Puerto Rico, Infant, Newborn, Hereditary folate malabsorption, Heterozygote advantage, Hispanic or Latino, medicine.disease, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, business, geographic locations, Proton-Coupled Folate Transporter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbd6fe987c3ef7d9332bc955b47c929Test
https://europepmc.org/articles/PMC3935241Test/