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1
المؤلفون: Joel Charrow, Robert Listernick, Anthony J. Mancini
المصدر: American Journal of Medical Genetics. :132-135
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Genetic counseling, Melanosis, Diagnosis, Differential, Plexiform neurofibroma, Café au lait spot, Internal medicine, Genes, Neurofibromatosis 1, medicine, Humans, Neurofibromatosis, Child, Genetics (clinical), Pigmentation disorder, Mosaicism, business.industry, Cafe-au-Lait Spots, Eye Neoplasms, medicine.disease, Dermatology, Pseudarthrosis, medicine.anatomical_structure, Endocrinology, Dysplasia, Child, Preschool, Female, sense organs, Eyelid, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a0cd074a74b604176f9eddae21f877Test
https://doi.org/10.1002/ajmg.a.20183Test -
2
المؤلفون: Randall S. Colby, Robert A. Saul
المصدر: American Journal of Medical Genetics. :60-63
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Eye disease, Radiography, Fibroma, Diagnosis, Differential, Café au lait spot, Internal medicine, medicine, Humans, Neurofibromatosis, Genetics (clinical), Femur fracture, business.industry, Cafe-au-Lait Spots, Nodule (medicine), Syndrome, Jaffe–Campanacci syndrome, medicine.disease, Dermatology, Endocrinology, Female, medicine.symptom, business, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84b62bf9cbcb82f59aac72b123d6e14Test
https://doi.org/10.1002/ajmg.a.20490Test -
3
المؤلفون: Enrique Galan-Gomez, Boris G. Kousseff, Rebecca Sutphen
المصدر: American journal of medical genetics. 55(3)
مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, Clitoris, Clitoromegaly, Malignancy, Internal medicine, medicine, Neurofibroma, Humans, Neurofibromatosis, Child, Genetics (clinical), Mons pubis, Vulvar Neoplasms, business.industry, Labia majora, medicine.disease, Dermatology, Endocrinology, medicine.anatomical_structure, Child, Preschool, Female, Differential diagnosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::707d79f9f988250ba4a9996f2f23a95eTest
https://pubmed.ncbi.nlm.nih.gov/7726231Test -
4
المؤلفون: James F. Reynolds, John M. Opitz, Peter Meinecke
المصدر: American Journal of Medical Genetics. 26:741-745
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurofibromatosis 1, business.industry, Noonan Syndrome, Neurofibromatosis Noonan syndrome, medicine.disease, Dermatology, Diagnosis, Differential, Child, Preschool, medicine, Humans, Neurofibromatosis, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211b14b4d1d26e9ce7f5e06b99cea644Test
https://doi.org/10.1002/ajmg.1320260331Test -
5
المؤلفون: M. Michael Cohen, John M. Optiz, James F. Reynolds
المصدر: American Journal of Medical Genetics. 29:777-782
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurofibromatosis 1, business.industry, Fibrous dysplasia, History, 19th Century, Syndrome, Disease, History, 20th Century, medicine.disease, Dermatology, Proteus syndrome, Diagnosis, Differential, Skull, Endocrinology, medicine.anatomical_structure, Maffucci syndrome, Internal medicine, medicine, Humans, Pyarthrosis, Neurofibromatosis, business, Genetics (clinical), Hip disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a96b0394b7ee5b555dd41403064bb3Test
https://doi.org/10.1002/ajmg.1320290407Test -
6
المؤلفون: John M. Opitz, David D. Weaver, James F. Reynolds
المصدر: American Journal of Medical Genetics. 21:471-476
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, animal structures, Neurofibromatosis 1, Adolescent, Neurofibromatosis Noonan syndrome, Medicine, Humans, cardiovascular diseases, Dermatoglyphics, Neurofibromatosis, skin and connective tissue diseases, Child, Physical Examination, Genetics (clinical), Genes, Dominant, business.industry, Noonan Syndrome, Syndrome, medicine.disease, Dermatology, Phenotype, Clinical evidence, Karyotyping, Mutation, Noonan syndrome, Female, business, Tomography, X-Ray Computed
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::952c89e03b7f73dd53a8eabb7a7214feTest
https://doi.org/10.1002/ajmg.1320210309Test -
7
المؤلفون: Joyce A. Mitchell, Jane Wray, James F. Reynolds, Karen Michalski, John M. Opitz
المصدر: American Journal of Medical Genetics. 22:571-575
مصطلحات موضوعية: Male, medicine.medical_specialty, Neurofibromatosis 1, Puberty, Precocious, Clinical manifestation, Spina Bifida Occulta, Intellectual Disability, Internal medicine, Testis, medicine, Humans, Precocious puberty, Neurofibromatosis, Sex Chromosome Aberrations, Genetics (clinical), Macroorchidism, business.industry, medicine.disease, Dermatology, Elevated FSH, Fragile X syndrome, Endocrinology, Chromosome Fragile Site, Child, Preschool, Fragile X Syndrome, Karyotyping, Inherited disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17a9397746452e84cb316371b3759956Test
https://doi.org/10.1002/ajmg.1320220315Test -
8
المؤلفون: Euan M. Scrimgeour, John M. Opitz, S. K. Sengupta
المصدر: American journal of medical genetics. 31(4)
مصطلحات موضوعية: medicine.medical_specialty, Papua New Guinea, Neurofibromatosis 1, business.industry, Mutation, medicine, New guinea, Humans, Neurofibromatosis, business, medicine.disease, Dermatology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e5a616f60e513d1e80104406ac71d2Test
https://pubmed.ncbi.nlm.nih.gov/3149150Test -
9
المصدر: American journal of medical genetics. 26(3)
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Neurofibromatosis Noonan syndrome, Short neck, Short stature, Ptosis, Internal medicine, medicine, Humans, cardiovascular diseases, Neurofibromatosis, Family history, Genetics (clinical), business.industry, Noonan Syndrome, medicine.disease, Dermatology, Endocrinology, Child, Preschool, Heart murmur, Noonan syndrome, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f8d44cec7ef2f74535c13ab8f0b18dTest
https://pubmed.ncbi.nlm.nih.gov/3105315Test