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1
المؤلفون: Karl Degenhardt, Mark P. Johnson, Rebecca C. Ahrens-Nicklas, Stefanie Kasperski, Matthew J. O'Connor, Alyssa Ritter, Sanmati Cuddapah
المصدر: American Journal of Medical Genetics Part A. 179:1042-1046
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Genotype, Heart disease, Cardiomyopathy, Left ventricular hypertrophy, Ultrasonography, Prenatal, Fetus, Pregnancy, Intensive Care Units, Neonatal, Prenatal Diagnosis, Genetics, Humans, Medicine, Neurofibromatosis, Family history, neoplasms, Genetics (clinical), Neurofibromatosis type I, Neurofibromin 1, business.industry, Pregnancy Outcome, Genetic disorder, medicine.disease, eye diseases, nervous system diseases, Radiography, Phenotype, Mutation, Female, Hypertrophy, Left Ventricular, Differential diagnosis, Cardiomyopathies, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29e41bbb02a8f7301ff6fd8bab8ef61Test
https://doi.org/10.1002/ajmg.a.61123Test -
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المؤلفون: Roope A. Kallionpää, Minna Pöyhönen, Tero Vahlberg, Sirkku Peltonen, Jussi Leppävirta, Elina Uusitalo, Susanna Timonen, Juha Peltonen
المصدر: American Journal of Medical Genetics Part A. 173:2641-2648
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Preeclampsia, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Health care, Genetics, medicine, Humans, Registries, Neurofibromatosis, Child, neoplasms, Finland, Genetics (clinical), Retrospective Studies, Fetus, Cesarean Section, Obstetrics, business.industry, Incidence, Medical record, Odds ratio, ta3121, medicine.disease, eye diseases, nervous system diseases, 3. Good health, Pregnancy Complications, 030104 developmental biology, Cohort, Female, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c07efb3939e6a46056b30270761bc506Test
https://doi.org/10.1002/ajmg.a.38372Test -
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المؤلفون: Khe Ni Ma, Amber Mathiesen, David A. Stevenson, Jade Tinker, David Viskochil, Paul S. Carbone
المصدر: American Journal of Medical Genetics Part A. 164:1706-1712
مصطلحات موضوعية: Male, Childhood Autism Spectrum Test, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Population, Modified Checklist for Autism in Toddlers, behavioral disciplines and activities, Surveys and Questionnaires, mental disorders, Genetics, medicine, Humans, Neurofibromatosis, Child, education, neoplasms, Early Detection of Cancer, Genetics (clinical), Retrospective Studies, education.field_of_study, medicine.diagnostic_test, business.industry, Medical record, Infant, medicine.disease, Checklist, nervous system diseases, Cross-Sectional Studies, Child Development Disorders, Pervasive, Autism spectrum disorder, Child, Preschool, Autism, Female, Observational study, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e801ba8590bf0a0dde1120cbbe99d6a6Test
https://doi.org/10.1002/ajmg.a.36549Test -
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المؤلفون: S. Edees, Meena Upadhyaya, Helen Stewart, Natalie Forrester, M. Crocker, C. Bowker, D. Mechan, Gillian Spurlock, S. Smalley
المصدر: American Journal of Medical Genetics Part A. :1444-1452
مصطلحات موضوعية: Genetic Markers, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Tumor suppressor gene, Loss of Heterozygosity, Locus (genetics), Loss of heterozygosity, Exon, Germline mutation, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, neoplasms, Germ-Line Mutation, Genetics (clinical), Sequence Deletion, Base Sequence, biology, Infant, Newborn, Microsatellite instability, Genes, p53, medicine.disease, Neurofibromin 1, eye diseases, nervous system diseases, biology.protein, Female, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a938f8ae2ebacb076fa4ac97c3cc259Test
https://doi.org/10.1002/ajmg.a.32305Test -
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المؤلفون: Juliane Hoyer, Raimund Fahsold, Ulrike Hüffmeier, Martin Zenker, Anita Rauch
المصدر: American Journal of Medical Genetics Part A. :2749-2756
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, DNA Mutational Analysis, LEOPARD Syndrome, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Watson syndrome, Neurofibromatosis type I, Base Sequence, biology, Noonan Syndrome, Infant, Newborn, Infant, DNA, medicine.disease, Neurofibromin 1, eye diseases, nervous system diseases, PTPN11, Phenotype, Child, Preschool, Mutation, biology.protein, Noonan syndrome, Female, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7192bebbe904441d853238d8d1c89842Test
https://doi.org/10.1002/ajmg.a.31547Test -
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المؤلفون: Toshiki Takenouchi, Kenjiro Kosaki, Keisuke Ueda, Midori Awazu, Yoriko Konishi, Takao Takahashi, Sachiko Shimozato
المصدر: American Journal of Medical Genetics Part A. 161:1154-1157
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Blood Pressure, Renal Artery Obstruction, Renal artery stenosis, Diagnosis, Differential, Renal Artery, Internal medicine, medicine.artery, Genetics, medicine, Humans, Right Renal Artery, Renal artery, neoplasms, Pulse wave velocity, Antihypertensive Agents, Genetics (clinical), business.industry, Angioplasty, medicine.disease, nervous system diseases, Stenosis, Hypertension, Renovascular, Blood pressure, Cardiology, Arterial stiffness, Renal vein, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59be634c1ad0cb881e3dcebe9396c09eTest
https://doi.org/10.1002/ajmg.a.35829Test -
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المؤلفون: David Viskochil, Robert J. Hopkin, Austin M. Stevens, Heidi J. Kalkwarf, Lisa J. Martin, Jaya K. George-Abraham, Elizabeth K. Schorry, Margaret B. Rieley, David A. Stevenson, Heather Hanson
المصدر: American Journal of Medical Genetics Part A. 161:921-926
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Bone density, Motor Activity, Fractures, Bone, Young Adult, Bone Density, Risk Factors, Surveys and Questionnaires, Prevalence, Genetics, medicine, Humans, Young adult, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Retrospective Studies, Bone mineral, Bone Diseases, Developmental, business.industry, Incidence (epidemiology), Retrospective cohort study, medicine.disease, Physical activity level, nervous system diseases, Calcium, Dietary, Osteopenia, Child, Preschool, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66242fcf3e5e93ab96d9deba77a99586Test
https://doi.org/10.1002/ajmg.a.35541Test -
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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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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