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المؤلفون: Yumna Kamal, Amani Al Bakri, Shaikha Aldossari
المصدر: Case Reports in Ophthalmological Medicine, Vol 2021 (2021)
Case Reports in Ophthalmological Medicineمصطلحات 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 -
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المؤلفون: Gwendolyn Huang, Mark H. Moore, Peter J. Anderson, Chutima Jirapinyo, Sam Gue, Vybhav Deraje
المصدر: Journal of Craniofacial Surgery. 31:908-911
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Skeletal survey, medicine.medical_treatment, Ear infection, Orthognathic surgery, Anterior fontanelle, Adenoidectomy, Young Adult, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Humans, Medicine, Craniofacial, Child, 030223 otorhinolaryngology, Tonsillectomy, Sleep Apnea, Obstructive, Cleidocranial Dysplasia, business.industry, Skull, Infant, Newborn, Infant, 030206 dentistry, General Medicine, Middle Aged, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Mutation, Wormian bones, Female, Surgery, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464b7e0598503fc0e412dcadcab69e67Test
https://doi.org/10.1097/scs.0000000000006306Test -
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المؤلفون: Upasna Sinha, Arun Prasad, Ramji Singh, Sangeeta Gupta, Gaurav Gupta
المصدر: Saudi Journal of Medicine and Medical Sciences, Vol 8, Iss 2, Pp 146-150 (2020)
Saudi Journal of Medicine & Medical Sciencesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, lcsh:Medicine, Case Report, craniofacial, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, cranial sutures, 030212 general & internal medicine, Craniofacial, Hypertelorism, Papilledema, crouzon syndrome, business.industry, lcsh:R, Dysostosis, Crouzon syndrome, General Medicine, Airway obstruction, medicine.disease, infant, Hydrocephalus, 030220 oncology & carcinogenesis, dysostosis, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1caa1fb2e3efa79a597ae8ac5bdf76a6Test
http://www.sjmms.net/article.asp?issn=1658-631X;year=2020;volume=8;issue=2;spage=146;epage=150;aulast=GuptaTest -
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المؤلفون: O.W. Daniyan, U.C. Iloduba, C. Ogbonna-Nwosu, O.B. Ezeanosike
المصدر: Nigerian Journal of Paediatrics. 47:277-279
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Thanatophoric dysplasia, business.industry, Macrocephaly, Tertiary institution, Fibroblast growth factor receptor 3, medicine.disease, Frontal Bossing, Dysplasia, medicine, South east, Excessive skin folds, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bf93ae5f826a47787f297d9fdaf163bbTest
https://doi.org/10.4314/njp.v47i3.14Test -
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المصدر: Child Neurology Open, Vol 8 (2021)
مصطلحات موضوعية: 0301 basic medicine, business.industry, Corpus Callosum Agenesis, Mowat–Wilson syndrome, General Medicine, Anatomy, 030105 genetics & heredity, Gene mutation, Corpus callosum, medicine.disease, Pediatrics, RJ1-570, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Agenesis, Medicine, Neurology. Diseases of the nervous system, Hypertelorism, medicine.symptom, business, RC346-429, 030217 neurology & neurosurgery, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c9e62c12bc2f31caef9fa31faf9510Test
https://doaj.org/article/113b66a1fecb4a8da381e3d232bdcedcTest -
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المؤلفون: Liaqat Hayat Khan, Shabih Manzar
المصدر: NeoReviews. 19:e707-e711
مصطلحات موضوعية: Thorax, Pediatrics, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Macrocephaly, Physical examination, Mean airway pressure, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, 030202 anesthesiology, Fraction of inspired oxygen, Micromelia, Pediatrics, Perinatology and Child Health, medicine, medicine.symptom, Presentation (obstetrics), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8c2e132896e3e95a5571114db11cd9e8Test
https://doi.org/10.1542/neo.19-11-e707Test -
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المصدر: Cureus
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, mcap, 030204 cardiovascular system & hematology, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Genetics, Polymicrogyria, Medicine, Megalencephaly, business.industry, pik3ca, General Engineering, Macrocephaly, pros, Perisylvian polymicrogyria, medicine.disease, medicine.anatomical_structure, Overgrowth syndrome, Cerebellar tonsil, medicine.symptom, Radiology, business, overgrowth syndrome, Esotropia, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::564478f524baa523b63ef393f69297abTest
https://doi.org/10.7759/cureus.6586Test -
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المؤلفون: Saygin Abali, Ihsan Esen, Ahmet Uçaktürk, Semra Cetinkaya, Ayhan Abacı, Azad Akberzade, Korcan Demir, Gönül Çatlı, Tulay Guran, Serap Turan, Damla Gökşen, Birgül Kirel, Yilmaz Kor, Ömer Tarım, Nihal Hatipoglu, Mehmet Nuri Ozbek, Zeynep Şıklar, Aslı Derya Kardelen, Ahmet Anık, Nesibe Akyürek, Atilla Cayir, Elvan Bayramoğlu, Murat Aydin, Ece Böber, Sukran Poyrazoglu, Erdal Eren, Onur Akın, Merih Berberoğlu, Edip Unal, Cengiz Kara, Ruken Yıldırım, Beray Selver Eklioğlu, Abdullah Bereket, Firdevs Bas, Emine Dilek, Muammer Buyukinan
المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., Tarım, Ömer, CCU-8073-2022, Siklar, Zeynep, Turan, Serap, Bereket, Abdullah, Bas, Firdevs, Guran, Tulay, Akberzade, Azad, Abaci, Ayhan, Demir, Korcan, Bober, Ece, Ozbek, Mehmet Nuri, Kara, Cengiz, Poyrazoglu, Sukran, Aydin, Murat, Kardelen, Asli, Tarim, Omer, Eren, Erdal, Hatipoglu, Nihal, Buyukinan, Muammer, Akyurek, Nesibe, Cetinkaya, Semra, Bayramoglu, Elvan, Eklioglu, Beray Selver, Ucakturk, Ahmet, Abali, Saygin, Goksen, Damla, Kor, Yilmaz, Unal, Edip, Esen, Ihsan, Yildirim, Ruken, Akin, Onur, Cayir, Atilla, Dilek, Emine, Kirel, Birgul, Anik, Ahmet, Catli, Gonul, Berberoglu, Merih, Ege Üniversitesi, OMÜ, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı, Ünal, Edip
المصدر: Journal of Clinical Research in Pediatric Endocrinology
JCRPE, Vol 12, Iss 2, Pp 150-159 (2020)مصطلحات موضوعية: Fibroblast growth factor 23, Male, Turkey, Endocrinology, Diabetes and Metabolism, Parathyroid hormone, Gene sequence, Treatment response, Gastroenterology, Pediatrics, Gene, 0302 clinical medicine, Endocrinology, Medicine, Child, Endocrinology & metabolism, Linear growth, Dentin matrix protein 1, Depression, Parathyroid hyperplasia, Phosphorus, Hip dysplasia, Management, Osteotomy, Hypophosphatemic rickets, Tooth abscess, Blood, Cohort studies, Cohort analysis, Cohort study, Human, medicine.medical_specialty, Entesopathy, Phosphate, Major clinical study, Article, 0-Belirlenecek, 03 medical and health sciences, Sodium phosphate cotransporter 2c, Alkaline phosphatase, Genetic screening, Wrist disease, Genetics, Humans, Short children, Cross-sectional study, Growth-hormone treatment, Questionnaire, PHEX, Puberty, Infant, Frontal bossing, lcsh:Pediatrics, Follow up, medicine.disease, 030104 developmental biology, Albright syndrome, Calcium-regulating hormones and agents, 0301 basic medicine, Cystinosis, Rickets, hypophosphatemic, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Bone pain, Turkey (bird), PHEX protein, Hyperparathyroidism, Phosphaturia, Genetic analysis, Kidney tubule absorption, lcsh:RJ1-570, Tyrosinemia, Combination drug therapy, Hypertension, Lordosis, Original Article, Female, Nephrocalcinosis, medicine.drug, Phosphate regulating neutral endopeptidase, Kidney tubule disorder, Ligament disease, Calcitriol, Adolescent, Child, preschool, CLCN5 gene, Oncogenic Osteomalacia, Familial Hypophosphatemic Rickets, Cancer, Drug therapy, combination, 030209 endocrinology & metabolism, Administration and dosage, Follow-up studies, Widening of wrist, Phosphates, PHEX phosphate regulating neutral endopeptidase, Internal medicine, Valgus knee, Gene mutation, Growth hormone, Craniofacial synostosis, Outcome assessment, health care, Kidney calcification, Prepuberty, lcsh:RC648-665, business.industry, Treatment, Hypophosphatemic Rickets, 25 hydroxyvitamin D, Clinical feature, Preschool child, Pediatrics, Perinatology and Child Health, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0e1f85da3399c9bfa3c4fa363aaad19Test
http://hdl.handle.net/11452/30611Test -
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المؤلفون: Asim Shaikh, Ramsha Ali, Laila Tul Qadar, Qazi Arsalan, Rohan Kumar Ochani
المصدر: Cureus
مصطلحات موضوعية: collagen, medicine.medical_specialty, Urinary system, osteogenesis imperfecta, 030204 cardiovascular system & hematology, Pediatrics, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Rheumatology, medicine, Renal osteodystrophy, Pelvis, Kidney, business.industry, General Engineering, medicine.disease, Surgery, brittle bone disease, Skull, Orthopedics, medicine.anatomical_structure, Osteogenesis imperfecta, Otosclerosis, mutation, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69e415f9ee506b8c14068e82d4fba00cTest
https://doi.org/10.7759/cureus.4467Test -
10Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
المؤلفون: Ja Hye Kim, Ja Hyang Cho, Jin-Ho Choi, Eul Ju Seo, Beom Hee Lee, Go Hun Seo, Han Wook Yoo, Gu-Hwan Kim
المصدر: Korean Journal of Pediatrics, Vol 59, Iss 1, Pp 16-23 (2016)
Korean Journal of Pediatricsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Hearing loss, 030105 genetics & heredity, 1p36 deletion syndrome, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Hypotelorism, medicine, Multiplex ligation-dependent probe amplification, business.industry, lcsh:RJ1-570, lcsh:Pediatrics, Microdeletion syndrome, medicine.disease, Surgery, Developmental disabilities, Palpebral fissure, Pediatrics, Perinatology and Child Health, Original Article, medicine.symptom, business, 030217 neurology & neurosurgery, Ventriculomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e99f63199036f33c04741e5e8cbff24bTest
http://kjp.or.kr/upload/pdf/kjped-59-16.pdfTest