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المصدر: Indian Journal of Cardiovascular Disease in Women, Vol 5, Iss 02, Pp 117-122 (2020)
مصطلحات موضوعية: 0301 basic medicine, Periorbital hyperpigmentation, medicine.medical_specialty, Progeria, Mitral regurgitation, business.industry, Immunology, lcsh:Surgery, progeria, lcsh:RD1-811, 030204 cardiovascular system & hematology, medicine.disease, Hyperpigmentation, Dermatology, Progeroid syndromes, 03 medical and health sciences, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, Retrognathia, medicine, Mitral valve prolapse, mitral regurgitation, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0684a71f745d5c07029fac7aa2f991d0Test
https://doi.org/10.1055/s-0040-1713689Test -
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المؤلفون: Jan M. Wit, Ahmad Kautsar, Aman B Pulungan
المصدر: Journal of Clinical Research in Pediatric Endocrinology. 11:426-431
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Proportionate short stature, Mutation, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Gene mutation, medicine.disease, medicine.disease_cause, Short stature, Hypoplasia, 03 medical and health sciences, Exon, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, IGHD, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::637fbebc387cac56173d386f5356433cTest
https://doi.org/10.4274/jcrpe.galenos.2019.2018.0305Test -
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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: 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: Shinji Takeyari, Kei Miyata, Tadashi Kaname, Taichi Kitaoka, Yasuhisa Ohata, Hirofumi Nakayama, Keiichi Ozono, Keiko Yamamoto, Takuo Kubota, Kumiko Yanagi, Kenichi Yamamoto
المصدر: American Journal of Medical Genetics Part A. 176:2882-2886
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Adolescent, Craniofacial abnormality, DNA Mutational Analysis, Vesicular Transport Proteins, Compound heterozygosity, Short stature, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Japan, Exome Sequencing, Genetics, medicine, Humans, Eye Abnormalities, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Brain, Osteogenesis Imperfecta, medicine.disease, Dermatology, Phenotype, 030104 developmental biology, Dysplasia, Osteogenesis imperfecta, Mutation, medicine.symptom, business, Cole Carpenter syndrome, 030217 neurology & neurosurgery, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20eef94ebb2bdbdf8ed9015044a6b210Test
https://doi.org/10.1002/ajmg.a.40643Test -
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المصدر: Bone
مصطلحات موضوعية: 0301 basic medicine, Histology, Nasal bridge, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, Article, 03 medical and health sciences, Exon, Frontal Bossing, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Gene, Genetics, Brachydactyly, Syndrome, Microdeletion syndrome, medicine.disease, Long non-coding RNA, DNM3, MicroRNAs, 030104 developmental biology, Phenotype, Female, Chromosome Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79861f8a1a084d35b2e4ebb9bc0048e3Test
https://pubmed.ncbi.nlm.nih.gov/33141070Test -
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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: Marc C. Patterson, Thomas Courtin, Scott D. McLean, Jeanne Amiel, Kimberly Nugent, Daryl A. Scott, Maham Sewani, Sandra Whalen, Boris Keren, Yaping Yang, Patrick R. Blackburn, Jessica M. Tarnowski, Jill A. Rosenfeld, Pavel N. Pichurin, Andres Hernandez-Garcia
المصدر: American journal of medical genetics. Part AREFERENCES. 182(4)
مصطلحات موضوعية: 0301 basic medicine, Adult, Heart Defects, Congenital, Male, Developmental Disabilities, Gestational Age, 030105 genetics & heredity, Biology, Corpus callosum, 03 medical and health sciences, Frontal Bossing, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Genetics (clinical), Loss function, Hemizygote, Macrocephaly, RNA-Binding Proteins, Syndrome, medicine.disease, Hypotonia, DNA-Binding Proteins, 030104 developmental biology, Palpebral fissure, Phenotype, Child, Preschool, Mutation, Left ventricular noncompaction, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cff03a9d644f71db78d3cdae7c74f8aTest
https://pubmed.ncbi.nlm.nih.gov/31883306Test -
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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