المؤلفون: Goel, Himanshu, O'Donnell, Sheridan, Roscioli, Tony, Hart, Francesca

المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

مصطلحات موضوعية: NKAP, neurodevelopmental disorder, intellectual disability, Marfanoid body habitus, autism spectrum disorder, abnormality of connective tissue

العلاقة: Clinical Dysmorphology Vol. 33, Issue 2, p. 79-82; http://hdl.handle.net/1959.13/1501542Test; uon:55161

الإتاحة: http://hdl.handle.net/1959.13/1501542Test

المؤلفون: Annemarie A. Verrijn Stuart, Medard F M van den Broek, Gerlof D. Valk, Hanneke M van Santen

المصدر: Clinical Endocrinology

مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Endocrinology, Diabetes and Metabolism, growth, Adrenal Gland Neoplasms, Multiple Endocrine Neoplasia Type 2a, Short stature, Endocrinology, Pediatric Endocrinology, Internal medicine, medicine, Humans, Thyroid Neoplasms, marfanoid body habitus, Multiple endocrine neoplasia, Child, Retrospective Studies, Body proportions, business.industry, Marfanoid, multiple endocrine neoplasia type 2B, Tall Stature, medicine.disease, Carcinoma, Neuroendocrine, short stature, Arm span, Original Article, final height, medicine.symptom, ORIGINAL ARTICLES, business, Body mass index, Multiple endocrine neoplasia type 2b

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba84a1886901f47cfa4004dc6c4470e0Test
https://pubmed.ncbi.nlm.nih.gov/34160841Test

المؤلفون: Iqbal Haider, Maimoona Ayub, Abidullah Khan, Mohammad Humayun

المصدر: Clinical Medicine Insights. Case Reports
Clinical Medicine Insights: Case Reports, Vol 9 (2016)
Clinical Medicine Insights: Case Reports, Vol 2016, Iss 9, Pp 115-118 (2016)

مصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, Pediatrics, medicine.medical_specialty, Case Report, Disease, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Lujan–Fryns syndrome, otorhinolaryngologic diseases, medicine, marfanoid body habitus, Family history, lcsh:R5-920, business.industry, Marfanoid, General Medicine, facial dysmorphism, medicine.disease, Hypernasal speech, Dysphagia, hypernasality, medicine.symptom, lcsh:Medicine (General), business, 030217 neurology & neurosurgery, Medical literature

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::926b0849671d2983a793831dc2eaca9cTest
https://doi.org/10.4137/ccrep.s41083Test

المؤلفون: Lorenz C. Hofbauer, Hassan M. Heshmati

المصدر: European journal of endocrinology. 137(6)

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Genotype, Endocrinology, Diabetes and Metabolism, Multiple endocrine neoplasia type 2, Multiple Endocrine Neoplasia Type 2a, Disease, Multiple Endocrine Neoplasia Type 2b, Genetic determinism, Pheochromocytoma, Endocrinology, Internal medicine, Proto-Oncogene Proteins, medicine, Drosophila Proteins, Humans, In patient, Hirschsprung Disease, Thyroid Neoplasms, Germ-Line Mutation, Marfanoid body habitus, integumentary system, business.industry, Proto-Oncogene Proteins c-ret, Receptor Protein-Tyrosine Kinases, General Medicine, medicine.disease, Prognosis, Phenotype, South american, Carcinoma, Medullary, business, Ganglioneuromatosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd162c8d8108539caad9a561d0aa2407Test
https://pubmed.ncbi.nlm.nih.gov/9437218Test

المؤلفون: Yoshiko Maruno, Hiroshi Shinkai, Hiroyuki Hashimoto, Jun Ishii, Noriaki Saito, Kentaro Sato, Mariko Saito, Yoshiki Sakatsume, Kimiko Saito, Yoshihito Hara

المصدر: Nihon Naika Gakkai Zasshi. 77:499-505

مصطلحات موضوعية: Marfan syndrome, Marfanoid body habitus, medicine.anatomical_structure, business.industry, Medicine, Connective tissue, Skin abnormality, General Medicine, Anatomy, business, medicine.disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1dd31f795db9892523da7c45a7130b7dTest
https://doi.org/10.2169/naika.77.499Test

المؤلفون: Victor D. Dembrow

المصدر: The American Journal of Surgery. 134:498-501

مصطلحات موضوعية: endocrine system, Marfanoid body habitus, Pathology, medicine.medical_specialty, endocrine system diseases, business.industry, medicine.medical_treatment, Thyroidectomy, Medullary thyroid cancer, General Medicine, medicine.disease, Pheochromocytoma, Arachnodactyly, Multiple Endocrine Adenomatosis Type IIB, Pectus excavatum, medicine, Surgery, business, Endocrine gland

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ddf05cb95646256895d512d415b4365dTest
https://doi.org/10.1016/0002-9610Test(77)90386-5

المؤلفون: Leslie A. Bard

المصدر: Ophthalmology. 86(10)

مصطلحات موضوعية: Marfan syndrome, Adult, Male, Pathology, medicine.medical_specialty, Pediatrics, Adolescent, Eye Diseases, Heart Diseases, Genetic counseling, Pedigree chart, Genetic Counseling, Endocrine System Diseases, Ectopia Lentis, Marfan Syndrome, Diagnosis, Differential, Neoplasms, medicine, Humans, Congenital contractural arachnodactyly, Child, Marfanoid body habitus, Syndrome type, business.industry, Infant, Newborn, Multiple Endocrine Neoplasia Type III, Infant, Syndrome, Lens Subluxation, Middle Aged, medicine.disease, Pedigree, Ophthalmology, Child, Preschool, Ehlers-Danlos Syndrome, Female, Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a02cced8eb412a11e21eae7c49f4b952Test
https://pubmed.ncbi.nlm.nih.gov/317927Test