المؤلفون: Özer, E., Geyik, F., Ünkar, Z.A., Ercan, O., Tüysüz, B.

مصطلحات موضوعية: 11p15 hypomethylation, Intrauterine growth restriction, Metabolic disorder, MLPA, Short stature, Silver-Russell syndrome, adolescent, Article, birth length, bone age, child, chromosome 11p, chromosome 14q, chromosome 20q, chromosome 6q, chromosome 7p, chromosome 7q, clinodactyly, controlled study, cryptorchism, dyslipidemia, female, follow up, frontal bossing, head circumference, human, human chromosome, hypercalciuria, hyperlipidemia, hypospadias

العلاقة: Molecular Syndromology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1159/000518630Test; https://hdl.handle.net/20.500.12831/17870Test; 13; 108; 116; 2-s2.0-85117445651

الإتاحة: https://doi.org/10.1159/000518630Test
https://doi.org/20.500.12831/17870Test
https://hdl.handle.net/20.500.12831/17870Test

المؤلفون: Lorenzo Curtò, Francesco Ferraù

المصدر: Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 107, Iss 2, Pp 1-5 (2019)

مصطلحات موضوعية: acromegaly, dysmorphic features, high stature, hyperprognatism, thickened lips, frontal bossing, Medicine, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://cab.unime.it/journals/index.php/APMB/article/view/2324Test; https://doaj.org/toc/1828-6550Test

الوصول الحر: https://doaj.org/article/9e69173b8f9742bab365621ba8c9e871Test

المؤلفون: Curtò, Lorenzo, Ferraù, Francesco

المصدر: Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche; Vol 107, No 2 (2019); 1-5 ; 1828-6550

مصطلحات موضوعية: Acromegaly, Dysmorphic features, High stature, Hyperprognatism, Thickened lips, Frontal bossing

وصف الملف: application/pdf

العلاقة: https://cab.unime.it/journals/index.php/APMB/article/view/APMB.107.2.2019.HV1/2003Test; https://cab.unime.it/journals/index.php/APMB/article/view/APMB.107.2.2019.HV1Test

الإتاحة: https://doi.org/10.6092/1828-6550/APMB.107.2.2019.HV1Test
https://cab.unime.it/journals/index.php/APMB/article/view/APMB.107.2.2019.HV1Test

المؤلفون: Xiao Han, Lin Wei, Xue Li, Wenying Nie, Bingjuan Han

المصدر: Pharmacogenomics and Personalized Medicine

مصطلحات موضوعية: Pharmacology, Pathology, medicine.medical_specialty, Microcephaly, phenotype, business.industry, Corpus Callosum Agenesis, Mowat–Wilson syndrome, Case Report, Gene mutation, medicine.disease, Frontal Bossing, Molecular Medicine, Medicine, gene mutation, Global developmental delay, Hypertelorism, medicine.symptom, business, Haploinsufficiency, ZEB2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5234274cff09f23d49bbea895de32bcaTest
https://doi.org/10.2147/pgpm.s320128Test

المؤلفون: Hülya Kayserili, Dilek Uludağ Alkaya, Sukru Palanduz, Ercan Mihci, Nilay Güneş, Banu Güzel Nur, Elifcan Taşdelen, Güven Toksoy, Sukru Ozturk, Tugba Kalayci, Zehra Oya Uyguner, Zuhal Bayramoglu, Beyhan Tüysüz, Umut Altunoglu, Leyla Elkanova, Ezgi Gizem Berkay, Volkan Karaman, Kivanc Cefle

المصدر: American Journal of Medical Genetics Part A. 185:2488-2495

مصطلحات موضوعية: medicine.medical_specialty, Cleidocranial Dysplasia, business.industry, Scoliosis, medicine.disease, Gastroenterology, Short stature, Frontal Bossing, medicine.anatomical_structure, Skeletal disorder, Clavicle, Internal medicine, Genetics, medicine, Wormian bones, Allelic heterogeneity, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3cdc5099a357ca74e90954c1da84212bTest
https://doi.org/10.1002/ajmg.a.62261Test

المؤلفون: Theresa Welgs, Vilmaris Quinones Cardona, Hera Mahmood

المصدر: NeoReviews. 22:e194-e197

مصطلحات موضوعية: Pregnancy, Respiratory distress, business.industry, medicine.medical_treatment, Infant, Newborn, Feeding Behavior, medicine.disease_cause, medicine.disease, Hypotonia, Hypoplasia, Frontal Bossing, Buphthalmos, Anesthesia, Pediatrics, Perinatology and Child Health, medicine, Humans, Muscle Hypotonia, Continuous positive airway pressure, medicine.symptom, business, Nasal cannula

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3083751c35b3091799c4f00495971f14Test
https://doi.org/10.1542/neo.22-3-e194Test

المؤلفون: Yumna Kamal, Amani Al Bakri, Shaikha Aldossari

المصدر: Case Reports in Ophthalmological Medicine, Vol 2021 (2021)
Case Reports in Ophthalmological Medicine

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, genetic structures, business.industry, Scaphocephaly, Case Report, General Medicine, RE1-994, Gene mutation, medicine.disease, eye diseases, Hydrocephalus, Entropion, Ophthalmology, Frontal Bossing, Red reflex, Hypotelorism, medicine, business, Lumbosacral joint

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7262f3d4928f1c83219ec91cc54500Test
https://doi.org/10.1155/2021/4808346Test

المؤلفون: Nidhi Puri Narang, Seema Ahuja, Upasana Sethi Ahuja

المصدر: Journal of Dental Specialities. 8:21-25

مصطلحات موضوعية: medicine.medical_specialty, Depressed nasal bridge, business.industry, Enucleation, Bifid rib, medicine.disease, Dermatology, Odontogenic, stomatognathic diseases, Frontal Bossing, medicine, Basal cell carcinoma, Keratocyst, medicine.symptom, Hypertelorism, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::461fb5ad6a20f33345813136e4aa0a22Test
https://doi.org/10.18231/j.jds.2020.006Test

المؤلفون: Joao Bosco Oliveira, Amanda Virginia Cavalcante, Catherine Castro, Timothy B. Niewold, Simone Appenzeller, Luciana B Paim-Marques, Theresa Wampler Muskardin

المصدر: Rheumatology International. 41:219-225

مصطلحات موضوعية: 030203 arthritis & rheumatology, medicine.medical_specialty, Abdominal pain, education.field_of_study, business.industry, Immunology, Population, medicine.disease, Dermatology, Rash, 03 medical and health sciences, Frontal Bossing, Canakinumab, 0302 clinical medicine, Rheumatology, medicine, Immunology and Allergy, Missense mutation, Polyarthritis, 030212 general & internal medicine, medicine.symptom, business, education, Livedo reticularis, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f7a1f6326dac6d43ba6e9e08cd46b147Test
https://doi.org/10.1007/s00296-020-04683-5Test

المؤلفون: Ashley Bjorklund, Tina M. Slusher, Beatrice Odongkara, Abigail Faulman, Cynthia R. Howard

المصدر: Pediatrics In Review. 42:203-205

مصطلحات موضوعية: Male, medicine.medical_specialty, Fever, Anemia, medicine.medical_treatment, Physical examination, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, 030225 pediatrics, Incision and drainage, medicine, Edema, Humans, Uganda, Forehead, 030212 general & internal medicine, Leukocytosis, Angioedema, Child, medicine.diagnostic_test, business.industry, Osteomyelitis, medicine.disease, Surgery, Bloody, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c40de03d5d880d19889b69d109045bTest
https://doi.org/10.1542/pir.2019-0282Test