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1دورية أكاديمية
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 -
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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 -
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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: 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: Amjed Abu-Ghname, Anjali C. Raghuram, Renata S. Maricevich, Matthew J. Davis, Claudia M.B. Carvalho, Diana E Guillen, V. Reid Sutton, Christopher J. Conlon
المصدر: American journal of medical genetics. Part AREFERENCES. 185(12)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Craniofacial abnormality, Limb Deformities, Congenital, Physical examination, Dwarfism, Genes, Recessive, Craniofacial Abnormalities, Frontal Bossing, Young Adult, Genetics, medicine, Humans, Abnormalities, Multiple, Craniofacial, Hypertelorism, Child, Genetics (clinical), Genes, Dominant, medicine.diagnostic_test, business.industry, Macrocephaly, ROR2, Middle Aged, medicine.disease, Dermatology, Robinow syndrome, Spine, Phenotype, Child, Preschool, Urogenital Abnormalities, Mutation, Female, medicine.symptom, Mouth Abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c30ba8946941124bc0c86aa0e27621e4Test
https://pubmed.ncbi.nlm.nih.gov/33237614Test -
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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 -
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المؤلفون: Harald Weng, Andreas Gerhardinger, Eva Rossier, Alina Henn, Günther Rettenberger, Simon Novak, Birgit Zirn
المصدر: Clinical Dysmorphology. 27:27-30
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Pathology, medicine.medical_specialty, Hearing loss, Hearing Loss, Conductive, Nerve Tissue Proteins, Haploinsufficiency, 030105 genetics & heredity, Pathology and Forensic Medicine, Craniofacial Abnormalities, 03 medical and health sciences, Frontal Bossing, Ptosis, otorhinolaryngologic diseases, medicine, Blepharoptosis, Humans, Genetic Predisposition to Disease, Hypertelorism, Frontonasal dysplasia, Child, Genetics (clinical), Homeodomain Proteins, Comparative Genomic Hybridization, business.industry, Infant, General Medicine, medicine.disease, Phenotype, Pedigree, Conductive hearing loss, 030104 developmental biology, Child, Preschool, Chromosomes, Human, Pair 2, Face, Mutation, Pediatrics, Perinatology and Child Health, Female, Anatomy, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d69c64ed97ce5a22be3d55f49380b06Test
https://doi.org/10.1097/mcd.0000000000000213Test -
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المؤلفون: Bidyut Roy, Anjana Mazumdar, Nishat Anjum, Anindita Ray, Esita Chattopadhyay, Sandip Ghose
المصدر: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. 124:e261-e265
مصطلحات موضوعية: Male, 0301 basic medicine, India, Receptors, Cell Surface, 030105 genetics & heredity, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, Frontal Bossing, Exon, Atrophy, Optic Atrophies, Hereditary, medicine, OMIM : Online Mendelian Inheritance in Man, Humans, Missense mutation, Radiology, Nuclear Medicine and imaging, Dentistry (miscellaneous), Allele, GAPO syndrome, Child, Growth Disorders, Anodontia, Genetics, Mutation, business.industry, Microfilament Proteins, Alopecia, medicine.disease, Neoplasm Proteins, Phenotype, 030104 developmental biology, Surgery, Oral Surgery, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e495984148a6c372350a781feddce2a7Test
https://doi.org/10.1016/j.oooo.2017.07.009Test -
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المؤلفون: Kate Chandler, Sara Faily, Jill E. Urquhart, Jill Clayton-Smith, Rahat Perveen
المصدر: Faily, S, Perveen, R, Urquhart, J, Chandler, K & Clayton-Smith, J 2017, ' Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome : Further delineation of the DDX59 phenotype in two new families ', European journal of medical genetics . https://doi.org/10.1016/j.ejmg.2017.07.009Test
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Microcephaly, Genes, Recessive, 030105 genetics & heredity, Biology, medicine.disease_cause, 03 medical and health sciences, Frontal Bossing, Tongue, Genetics, medicine, Humans, Genetics(clinical), Hypertelorism, Child, Genetics (clinical), Mutation, Infant, General Medicine, Orofaciodigital Syndromes, medicine.disease, Phenotype, Stop codon, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Codon, Terminator, Female, medicine.symptom, RNA Helicases
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d92b2e815edb458818a687b023d628eTest
https://doi.org/10.1016/j.ejmg.2017.07.009Test