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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: Sybill D. Naidoo, Dennis C. Nguyen, Albert S. Woo, Kamlesh B. Patel, Matthew D. Smyth, Debra W. Yen, Gary B. Skolnick
المصدر: Journal of Craniofacial Surgery. 30:2350-2354
مصطلحات موضوعية: medicine.medical_treatment, Facial Bones, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, Humans, In patient, Longitudinal Studies, Postoperative Period, 030223 otorhinolaryngology, Craniotomy, Retrospective Studies, Cephalic index, business.industry, Scaphocephaly, Infant, 030206 dentistry, General Medicine, Plastic Surgery Procedures, medicine.disease, Treatment Outcome, Frontal bone, medicine.anatomical_structure, Otorhinolaryngology, Sagittal synostosis, Frontal Bone, Forehead, Surgery, Tomography, X-Ray Computed, Nuclear medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9347a58080b38d0b7768c1422b4524ebTest
https://doi.org/10.1097/scs.0000000000005786Test -
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المؤلفون: Hande Turan, Oya Ercan, Busra Kasap, Gozde Yesil, Zeynep Alp Ünkar, Alper Gezdirici, Dilek Uludağ Alkaya, Beyhan Tüysüz, Mehmet Vural
المصدر: European journal of medical genetics. 64(12)
مصطلحات موضوعية: Male, Adolescent, Hyperlordosis, Dwarfism, Cohort Studies, Frontal Bossing, Young Adult, Genetics, Medicine, Humans, Child, Genetics (clinical), Nose, Rib cage, business.industry, Genetic Variation, Infant, Slender long bone, General Medicine, Anatomy, Cullin Proteins, Body Height, Spine, Tubercle of the upper lip, Natural history, Cytoskeletal Proteins, medicine.anatomical_structure, Child, Preschool, Face, Cohort, Muscle Hypotonia, Female, business, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c30bb9a6b2fc60489b8a5b68cb7dfTest
https://pubmed.ncbi.nlm.nih.gov/34597859Test -
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المؤلفون: Christopher R. Forrest, John Phillips, Sultan Z Al-Shaqsi, Ahsan Rai
المصدر: Journal of Craniofacial Surgery. 30:366-369
مصطلحات موضوعية: Male, Cephalometry, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine, Humans, 030223 otorhinolaryngology, Retrospective Studies, Orthodontics, Cephalic index, business.industry, Skull, Infant, Newborn, Scaphocephaly, Infant, 030206 dentistry, General Medicine, Reference Standards, Glabella, medicine.disease, medicine.anatomical_structure, Otorhinolaryngology, Sample size determination, Length change, Sagittal craniosynostosis, Female, Surgery, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4244f4844817fb17d60a079858cbfbTest
https://doi.org/10.1097/scs.0000000000005034Test -
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المؤلفون: Edward Yang, S. Alex Rottgers, Yasser Jeelani, Diana S. Jodeh, Mark R. Proctor, Hasan R Syed, John G. Meara
المصدر: Plastic and Reconstructive Surgery. 143:183-196
مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Cephalometry, 030230 surgery, Risk Assessment, Craniosynostosis, Cohort Studies, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Humans, Medicine, In patient, Retrospective Studies, Observer Variation, Postoperative Care, business.industry, Infant, Endoscopy, Retrospective cohort study, Cranial Sutures, Hospitals, Pediatric, medicine.disease, Hydrocephalus, Surgery, Treatment Outcome, 030220 oncology & carcinogenesis, Bilateral coronal craniosynostosis, Coronal plane, Female, Head Protective Devices, Tomography, X-Ray Computed, business, Brachycephaly, Boston, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc47119f623ef0949dd6d6268f7da576Test
https://doi.org/10.1097/prs.0000000000005118Test -
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المؤلفون: Naama Yosha-Orpaz, Tally Lerman-Sagie, Keren Yosovich, Miri Yanoov-Sharav, Dvora Kidron, Hila Gur, R. Birnbaum, Gustavo Malinger, Dorit Lev
المصدر: American Journal of Medical Genetics Part A. 179:78-84
مصطلحات موضوعية: Male, 0301 basic medicine, Protein-Arginine N-Methyltransferases, Pathology, medicine.medical_specialty, Developmental Disabilities, Intrauterine growth restriction, Astrocytoma, Arginine, Compound heterozygosity, Methylation, Short stature, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Pregnancy, Intellectual Disability, Genetics, medicine, Humans, Global developmental delay, Genetics (clinical), Fetal Growth Retardation, business.industry, Brachydactyly, Infant, Newborn, Infant, medicine.disease, Hypotonia, 030104 developmental biology, Mutation, Muscle Hypotonia, Orbital Neoplasms, Female, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed2f6ea600ec14b1c9636a06929e215Test
https://doi.org/10.1002/ajmg.a.6Test -
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المؤلفون: Ezgi Mercan, Amy Lee, Richard A. Hopper, Richard G. Ellenbogen, Widya Adidharma, Chad A. Purnell, Craig B. Birgfeld
المصدر: Plastic and reconstructive surgery. 147(1)
مصطلحات موضوعية: Male, Cephalometry, 030230 surgery, Muenke syndrome, 03 medical and health sciences, Frontal Bossing, Craniosynostoses, 0302 clinical medicine, Medicine, Humans, Orthopedic Procedures, Forehead, Retrospective Studies, Orthodontics, business.industry, Skull, Case-control study, Infant, Acrocephalosyndactylia, medicine.disease, Sagittal plane, Saethre chotzen, medicine.anatomical_structure, Treatment Outcome, 030220 oncology & carcinogenesis, Case-Control Studies, Child, Preschool, Coronal synostosis, Surgery, Female, Presentation (obstetrics), business, Tomography, X-Ray Computed, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::137cb44d4e5f1709ea2aa329e7689b02Test
https://pubmed.ncbi.nlm.nih.gov/33370058Test -
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المؤلفون: Erica H. Gerkes, Pietro Strisciuglio, Renata Lazari Sandoval, Todd Waters, A. Rossi, Renata Posmyk, Sheela Unger, Constance T. R. M. Stumpel, Hanne B Hove, Tina Barbaro-Dieber, Marco Tartaglia, Keri Ramsey, Petr E. Jira, Daniel R. Carvalho, Vinodh Narayanan, Leonie A. Menke, Katherine Lachlan, Michael J. Gambello, Viviana Cordeddu, Sandra Jansen, Marrit M. Hitzert, Peter D. Turnpenny, Blanca Gener, Daniela Melis, Raoul C.M. Hennekam, Damara Ortiz, Clare Turnbull, Kyra E. Stuurman, Eline Overwater, Alberto J. Espay
المساهمون: Pediatric surgery, Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, General Paediatrics, ANS - Cellular & Molecular Mechanisms, ARD - Amsterdam Reproduction and Development, Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, APH - Quality of Care, Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., Sandoval, R. L., Stumpel, C., Stuurman, K. E., Cordeddu, V., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C., Hennekam, R. C.
المصدر: Clinical Genetics, 97(6), 890-901. Wiley-Blackwell
Clinical Genetics
Clinical Genetics, 97(6), 890-901. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 97(6), 890-901. Wiley
Clinical genetics, 97(6), 890-901. Wiley-Blackwell
Melis, D, Carvalho, D, Barbaro-Dieber, T, Espay, A J, Gambello, M J, Gener, B, Gerkes, E, Hitzert, M M, Hove, H B, Jansen, S, Jira, P E, Lachlan, K, Menke, L A, Narayanan, V, Ortiz, D, Overwater, E, Posmyk, R, Ramsey, K, Rossi, A, Sandoval, R L, Stumpel, C, Stuurman, K E, Cordeddu, V, Turnpenny, P, Strisciuglio, P, Tartaglia, M, Unger, S, Waters, T, Turnbull, C & Hennekam, R C 2020, ' Primrose syndrome : Characterization of the phenotype in 42 patients ', Clinical Genetics, vol. 97, no. 6, pp. 890-901 . https://doi.org/10.1111/cge.13749Test
Clinical genetics, vol. 97, no. 6, pp. 890-901مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, alpha‐fetoprotein, Transcription Factor, 030105 genetics & heredity, Carbon-Carbon Double Bond Isomerase, Racemases and Epimerase, Intellectual disability, ectopic calcifications, Primrose syndrome, Child, Wasting, Enoyl-CoA Hydratase, Genetics (clinical), ABNORMALITIES, 3-Hydroxyacyl CoA Dehydrogenases, Calcinosis, ZBTB20, Middle Aged, Ear Disease, Acetyl-CoA C-Acyltransferase, CANCER, Mitochondria, Muscular Atrophy, DIFFERENTIATION, Phenotype, Child, Preschool, Calcinosi, Original Article, Female, medicine.symptom, Human, Adult, medicine.medical_specialty, Heterozygote, Adolescent, alpha-fetoprotein, overgrowth, Mutation, Missense, Racemases and Epimerases, Nerve Tissue Proteins, Genetic Association Studie, 03 medical and health sciences, Frontal Bossing, Young Adult, Testicular Neoplasms, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Testicular Neoplasm, Ear Diseases, Genetic Association Studies, Muscle contracture, MUTATIONS, business.industry, ectopic calcification, 3-Hydroxyacyl CoA Dehydrogenase, Macrocephaly, Infant, Original Articles, medicine.disease, Carbon-Carbon Double Bond Isomerases, Megalencephaly, ALPHA, 030104 developmental biology, Palpebral fissure, Face, Nerve Tissue Protein, Mutation, business, FINGER PROTEIN ZBTB20, Calcification, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c704da4b2a461a7f3c66ca7f294abeTest
http://hdl.handle.net/11386/4745225Test -
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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