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المؤلفون: John C. Carey, Talia M. Muram, Rong Mao, Brian R. Jackson, Sarah Watts-Justice, David A. Stevenson, David Viskochil
المصدر: American Journal of Medical Genetics Part A. 161:467-472
مصطلحات موضوعية: Risk, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, DNA Mutational Analysis, Population, MEDLINE, Cost Savings, Genetics, medicine, Humans, Computer Simulation, Genetic Predisposition to Disease, Genetic Testing, Neurofibromatosis, Child, education, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetic testing, Legius syndrome, education.field_of_study, Cost–benefit analysis, medicine.diagnostic_test, business.industry, Intracellular Signaling Peptides and Proteins, Membrane Proteins, medicine.disease, Cost savings, Mutational analysis, Models, Economic, Molecular Diagnostic Techniques, Child, Preschool, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f01311ba185b6ec84b77e3049dfd8afTest
https://doi.org/10.1002/ajmg.a.35718Test -
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المؤلفون: X. Wang, S.E. Smolinski, Michael A. Tainsky, F.D. Vigneau, N.K. Levin, A.M. Levin
المصدر: American Journal of Medical Genetics Part A. :3061-3064
مصطلحات موضوعية: Adult, Michigan, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Breast Neoplasms, Cohort Studies, Young Adult, Breast cancer screening, Breast cancer, Neoplasms, Epidemiology of cancer, Genetics, Surveillance, Epidemiology, and End Results, Humans, Medicine, Genetic Predisposition to Disease, Registries, Age of Onset, Young adult, Genetics (clinical), Aged, Retrospective Studies, Aged, 80 and over, medicine.diagnostic_test, business.industry, Obstetrics, Incidence, Incidence (epidemiology), Cancer, Middle Aged, medicine.disease, Female, Age of onset, business, SEER Program
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba2067f897e76120efe0f596f6cb4fd9Test
https://doi.org/10.1002/ajmg.a.35560Test -
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المؤلفون: Jinchao Cao, Lei Qu, Wanyu Zhao, Yazhou Li, Jiuhui Han, Junzhong Luo
المصدر: American Journal of Medical Genetics Part A. :1742-1749
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Medullary cavity, medicine.medical_treatment, Radiography, Diagnosis, Differential, Genetics, medicine, Humans, Tibia, Neurofibromatosis, Fibula, neoplasms, Genetics (clinical), Polydactyly, business.industry, Infant, Newborn, Infant, Anatomy, musculoskeletal system, medicine.disease, body regions, Pseudarthrosis, Amputation, Child, Preschool, Hallux, business, Lower Extremity Deformities, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5dd9f8fdeb74907589deba07b08557cTest
https://doi.org/10.1002/ajmg.a.35417Test -
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المؤلفون: Sandra Janssens, Marjan Cosyns, John Van Borsel, Geert Mortier, Kathleen Claes
المصدر: NF conference 2011 : program book
American journal of medical genetics : part Aمصطلحات موضوعية: Adult, Male, Consonant, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Population, Audiology, Young Adult, Nasometry, Sex Factors, Belgium, Medicine and Health Sciences, otorhinolaryngologic diseases, Genetics, medicine, Humans, Neurofibromatosis, Young adult, education, neoplasms, Genetic Association Studies, Genetics (clinical), Aged, Nasality, education.field_of_study, Voice Disorders, business.industry, Age Factors, Case-control study, Brain, Middle Aged, medicine.disease, nervous system diseases, Case-Control Studies, Mutation, Female, Human medicine, Nasalance, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5150f707e55629a85316981c2788282Test
https://doi.org/10.1002/ajmg.a.34314Test -
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المؤلفون: Menggang Yu, Yaling Liu, Yongzheng He, Xiaohong Li, Heather Hanson, Shi Chen, Yongmin Jing, John C. Carey, Laurie J. Moyer-Mileur, Karl Staser, Huijie Li, Dalong Yang, Wei Zhang, Lucy Miller, Xiaohua Wu, Zhiping Guo, Elisabeth L. Schwarz, Qi Zhang, Marzia Pasquali, Feng Chun Yang, Jincheng Yan, David A. Stevenson, David Viskochil, Kent Roberson
المصدر: American Journal of Medical Genetics Part A. 155:1050-1059
مصطلحات موضوعية: Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Blotting, Western, Osteoporosis, Osteoclasts, Article, Bone resorption, GTP Phosphohydrolases, Absorptiometry, Photon, Osteoclast, Internal medicine, Cell Adhesion, Genetics, medicine, Humans, Neurofibromatosis, Child, Cell adhesion, Cells, Cultured, Genetics (clinical), Cell Proliferation, Chemistry, Infant, medicine.disease, Phenotype, nervous system diseases, Enzyme Activation, medicine.anatomical_structure, Endocrinology, Microscopy, Fluorescence, Dysplasia, Child, Preschool, Mitogen-Activated Protein Kinases, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::951a2a6ecdc8218ce86fa7855d371838Test
https://doi.org/10.1002/ajmg.a.33965Test -
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المصدر: American Journal of Medical Genetics Part A. :284-290
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurofibromatosis 1, Speech perception, Adolescent, Resonance problem, Audiology, Speech Disorders, Voice Disorder, Cognition, Language Problems, Genetics, medicine, Humans, Speech, Language Development Disorders, Neurofibromatosis, Child, Genetics (clinical), Family Health, Language Tests, Infant, medicine.disease, El Niño, Child, Preschool, Speech Perception, Female, Articulation (phonetics), Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d730dc628dba3cbcbd466ba9212e468Test
https://doi.org/10.1002/ajmg.a.33235Test -
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المؤلفون: David L. Kendler, Gina Agiostratidou, Aaron Schindeler, Alvin H. Crawford, David Viskochil, Kim Hunter-Schaedle, Xijie Yu, David G. Little, John C. Carey, Patricia Birch, Elizabeth K. Schorry, Mateusz Kolanczyk, Feng Chun Yang, Linlea Armstrong, Stefan Mundlos, David A. Stevenson, Florent Elefteriou, David S. Feldman, Jan M. Friedman, Juha Peltonen, Janet M. Hock
المصدر: American Journal of Medical Genetics Part A. :2327-2338
مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, Disease, Bioinformatics, Key issues, Models, Biological, Bone and Bones, Mice, Internal medicine, Sphenoid Bone, Genetics, medicine, Animals, Humans, Neurofibromatosis, Thoracic Wall, Genetics (clinical), Bone Diseases, Developmental, Developmental therapy, Tibia, business.industry, medicine.disease, Natural history, Clinical trial, Disease Models, Animal, Endocrinology, Skeletal abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ed3a76da3614095c910b2620e2c531Test
https://doi.org/10.1002/ajmg.a.33045Test -
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المؤلفون: Raimund Fahsold, Martin Wilken, Christian Thiel, Gabriele-Charlotte Gusek-Schneider, Heinrich Sticht, Martin Zenker, Anita Rauch
المصدر: American Journal of Medical Genetics Part A. :1263-1267
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, DNA Mutational Analysis, Molecular Sequence Data, Neurofibromatosis Noonan syndrome, Mutation, Missense, Mothers, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Nuclear Family, Internal medicine, Genetics, medicine, Humans, Missense mutation, Neurofibroma, Abnormalities, Multiple, Amino Acid Sequence, Isoleucine, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Neurofibromin 1, biology, Cafe-au-Lait Spots, Noonan Syndrome, Infant, medicine.disease, eye diseases, Pedigree, nervous system diseases, PTPN11, Endocrinology, Amino Acid Substitution, Mutation, Mutation (genetic algorithm), biology.protein, Noonan syndrome, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5056179ce8bd255685b12971413c430Test
https://doi.org/10.1002/ajmg.a.32837Test -
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المؤلفون: Elizabeth M. Petty, Kate F. Barald, Therese M. Roth
المصدر: American Journal of Medical Genetics Part A. :1624-1633
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cell type, Neurofibromatosis 1, Tumor suppressor gene, Angiogenesis, medicine.medical_treatment, Schwann cell, Apoptosis, Pregnancy, Internal medicine, Genetics, medicine, Humans, Neurofibromatosis, Gonadal Steroid Hormones, Genetics (clinical), Neurofibromin 1, biology, Hypertension, Pregnancy-Induced, medicine.disease, nervous system diseases, Pregnancy Complications, Steroid hormone, Cell Transformation, Neoplastic, Phenotype, medicine.anatomical_structure, Endocrinology, biology.protein, Cancer research, Blood Vessels, Female, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1a12825fe39c34a59866d2f9c966a8Test
https://doi.org/10.1002/ajmg.a.32301Test -
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المؤلفون: Jean Revuz, Pierre Wolkenstein, Dominique Vidaud, Kiarash Khosrotehrani, Christine Bellane, Sylvie Bastuji-Garin, David Farhi
المصدر: American Journal of Medical Genetics Part A. :159-165
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Multivariate analysis, Younger age, Adolescent, Genetic counseling, Prenatal diagnosis, Cohort Studies, Prenatal Diagnosis, Genetics, medicine, Humans, Neurofibromatosis, Genetics (clinical), Multinomial logistic regression, business.industry, Middle Aged, medicine.disease, Cohort, Female, France, business, Follow-Up Studies, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dd6ce3dbe8f94c47ac06ec811c03688Test
https://doi.org/10.1002/ajmg.a.32066Test