المؤلفون: COUZIN-FRANKEL, JENNIFER

المصدر: Science. 4/16/2010, Vol. 328 Issue 5976, p298-300. 3p.

مصطلحات موضوعية: *DYSAUTONOMIA, *HUMAN chromosome abnormality diagnosis, *NERVOUS system abnormalities, *DISEASE incidence, *NEUROGENETICS, *CYSTIC fibrosis, *GENETICS

الشركة/الكيان: AMERICAN College of Obstetricians & Gynecologists 076890524

People: AXELROD, Felicia

المؤلفون: P. J. H.

المصدر: Science. 11/29/2013, Vol. 342 Issue 6162, p1020-1020. 1/4p.

مصطلحات موضوعية: *DYSAUTONOMIA, *KINASE inhibitors

People: GEORGE, L.

المؤلفون: Jennifer Couzin-Frankel

المصدر: Science. 328:298-300

مصطلحات موضوعية: medicine.medical_specialty, Multidisciplinary, business.industry, Familial dysautonomia, Family medicine, Medicine, Disease, Carrier testing, Gene mutation, business, medicine.disease, Test (assessment)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::26d22266f3f8be12d42fec76b4ae9fa1Test
https://doi.org/10.1126Test/science.328.5976.298

المؤلفون: Pearson, John, Brandeis, Leslie, Goldstein, Menek

المصدر: Science, 1979 Oct 01. 206(4414), 71-72.

الوصول الحر: https://www.jstor.org/stable/1749210Test

المؤلفون: Smith, Alfred, Farbman, Alfred, Dancis, Joseph

المصدر: Science, 1965 Feb . 147(3661), 1040-1041.

الوصول الحر: https://www.jstor.org/stable/1715241Test

المؤلفون: Marinkelle, C. J., Grose, E.

المصدر: Science, 1965 Feb . 147(3661), 1039-1040.

الوصول الحر: https://www.jstor.org/stable/1715240Test

المؤلفون: Menek Goldstein, L. Brandeis, John Pearson

المصدر: Science. 206:71-72

مصطلحات موضوعية: Adult, medicine.medical_specialty, Multidisciplinary, Adolescent, Tyrosine 3-Monooxygenase, Tyrosine hydroxylase, Cell, Infant, Autopsy, Biology, medicine.disease, medicine.anatomical_structure, Endocrinology, Antigen, Familial dysautonomia, Child, Preschool, Internal medicine, Dysautonomia, Familial, medicine, Humans, Child, Ganglia, Autonomic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39409f7e2264cb3dee8ebdb9dd9cf7e8Test
https://doi.org/10.1126Test/science.39339

المؤلفون: W H, Finley, S C, Finley

المصدر: Science. 156:1519-1520

مصطلحات موضوعية: Counseling, Multidisciplinary, Ellis-Van Creveld Syndrome, Genetics, Medical, Anemia, Hemolytic, Congenital, Hemophilia A, Muscular Dystrophies, Hemoglobinopathies, Cytogenetics, Genetics, Population, Pharmacogenetics, Alabama, Dysautonomia, Familial, Humans, Dermatoglyphics, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f071e03f7622e5f3096149e5bccc78Test
https://doi.org/10.1126Test/science.156.3781.1519

المصدر: Science. 11/26/2010, Vol. 330 Issue 6008, p1172-1173. 2p.

مصطلحات موضوعية: *STEM cell research, *RARE diseases, *SPINAL muscular atrophy, *DYSAUTONOMIA, *HUMAN cell culture, *SCIENTIFIC development, *ETIOLOGY of diseases, *DRUG development, *GENETICS