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1دورية أكاديمية
المؤلفون: Tanner, Mila, Miettinen, Päivi J., Hero, Matti, Toppari, Jorma, Raivio, Taneli
المساهمون: Faculty of Medicine, Children's Hospital, HUS Children and Adolescents, STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Research Programs Unit, Raivio Group
مصطلحات موضوعية: androgens, Klinefelter syndrome, puberty, sex chromosome disorder, spermatogenesis, testis, testosterone, FOLLICLE-STIMULATING-HORMONE, DELAYED PUBERTY, LUTEINIZING-HORMONE, TESTICULAR FUNCTION, ADOLESCENT BOYS, INHIBIN B, DIAGNOSIS, SERUM, HYPOGONADISM, General medicine, internal medicine and other clinical medicine
وصف الملف: application/pdf
العلاقة: Tanner , M , Miettinen , P J , Hero , M , Toppari , J & Raivio , T 2022 , ' Onset and progression of puberty in Klinefelter syndrome ' , Clinical Endocrinology , vol. 96 , no. 3 , pp. 363-370 . https://doi.org/10.1111/cen.14588Test; ORCID: /0000-0002-5184-9616/work/127008160; http://hdl.handle.net/10138/353099Test; 91655671-c843-45e1-a559-0adbc2142c2c; 000695724200001
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2دورية أكاديمية
المؤلفون: Serra, Gregorio, Giambrone, Clara, Antona, Vincenzo, Cardella, Francesca, Carta, Maurizio, Cimador, Marcello, Corsello, Giovanni, Giuffre, Mario, Insinga, Vincenzo, Maggio, Maria Cristina, Pensabene, Marco, Schierz, Ingrid Anne Mandy, Piro, Ettore
المساهمون: Serra, Gregorio, Giambrone, Clara, Antona, Vincenzo, Cardella, Francesca, Carta, Maurizio, Cimador, Marcello, Corsello, Giovanni, Giuffre, Mario, Insinga, Vincenzo, Maggio, Maria Cristina, Pensabene, Marco, Schierz, Ingrid Anne Mandy, Piro, Ettore
مصطلحات موضوعية: CES, Case report, Cholestasi, Congenital hypopituitarism, Neonatal hypoglycemia, Supernumerary marker chromosome, Aneuploidy, Chromosome Aberration, Chromosome Disorder, Chromosomes, Human, Pair 22, Eye Abnormalitie, Female
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36076277; info:eu-repo/semantics/altIdentifier/wos/WOS:000852401400001; volume:48; issue:1; firstpage:170; numberofpages:8; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/10447/568563Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137567876
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3دورية أكاديمية
المؤلفون: Pruccoli J., Graziano C., Locatelli C., Maltoni L., Sheikh Maye H. A., Cordelli D. M.
المساهمون: Pruccoli J., Graziano C., Locatelli C., Maltoni L., Sheikh Maye H.A., Cordelli D.M.
مصطلحات موضوعية: EBF3, Magnetic resonance imaging (MRI), Neurology, Neuroradiology, R(10), R10, Ring chromosome 10, ZMYND11, Brain, Cell Cycle Protein, Child, Preschool, Chromosome Disorder, Chromosomes, Human, Pair 10, Co-Repressor Protein, DNA-Binding Protein, Developmental Disabilitie, Female, Intellectual Disability, Ring Chromosome, Syndrome, Transcription Factor, Phenotype
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34680908; info:eu-repo/semantics/altIdentifier/wos/WOS:000717083400001; volume:12; issue:10; firstpage:1513; lastpage:1513; numberofpages:10; journal:GENES; http://hdl.handle.net/11585/857161Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116052418; https://www.mdpi.com/2073-4425/12/10/1513/htmTest
الإتاحة: https://doi.org/10.3390/genes12101513Test
http://hdl.handle.net/11585/857161Test
https://www.mdpi.com/2073-4425/12/10/1513/htmTest -
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المؤلفون: Fearon, Kriss
مصطلحات موضوعية: chromosome disorder, reproductive timing, imaginaries, turner syndrome, infertility, futurity
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______909::de35df7dc074de7f7b335587a20d608fTest
https://doi.org/10.1016/j.socscimed.2023.116005Test -
5دورية أكاديمية
المؤلفون: Fernandez A. G. L., Crescenzi B., Pierini V., Di Battista V., Barba G., Pellanera F., Di Giacomo D., Roti G., Piazza R., Adelman E. R., Figueroa M. E., Mecucci C.
المساهمون: Fernandez, A, Crescenzi, B, Pierini, V, Di Battista, V, Barba, G, Pellanera, F, Di Giacomo, D, Roti, G, Piazza, R, Adelman, E, Figueroa, M, Mecucci, C
مصطلحات موضوعية: Adult, Aged, 80 and over, Binding Site, Chromosome Disorder, Down-Regulation, Epigenesis, Genetic, Epigenomic, Female, Human, Karyotyping, Male, Middle Aged, Monosomy, Myelodysplastic Syndrome, Retrospective Studie, Transcription, Translocation, Trisomy
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30923319; info:eu-repo/semantics/altIdentifier/wos/WOS:000488517000012; volume:33; issue:10; firstpage:2481; lastpage:2494; numberofpages:14; journal:LEUKEMIA; http://hdl.handle.net/10281/279423Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063615429
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6
المؤلفون: Yurttas, Deniz
مصطلحات موضوعية: chromosome disorder, strabism, Trisomy 21, Trisomie 21, visual acuity, Kongenitale Katarakt, Down syndrome, Orthoptische Untersuchung, hypoaccommodation, Strabismus, Nystagmus, congenital cataract, Hypoakkommodation, refractive errors, Chromosomenstörung, orthoptic examination, Down-Syndrom, Sehschärfe, Refraktionsfehler, nystagmus
وصف الملف: kein Volltext verfügbar
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_____10650::9f5fcf8350ad53d4d6a20ca74bb58341Test
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7
المؤلفون: Päivi J. Miettinen, Jorma Toppari, Matti Hero, Taneli Raivio, Mila Tanner
المساهمون: Faculty of Medicine, Children's Hospital, HUS Children and Adolescents, STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Research Programs Unit, Raivio Group
المصدر: Clinical Endocrinology. 96:363-370
مصطلحات موضوعية: Male, Delayed puberty, puberty, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, LUTEINIZING-HORMONE, 030209 endocrinology & metabolism, testis, DIAGNOSIS, SERUM, 03 medical and health sciences, Follicle-stimulating hormone, 0302 clinical medicine, Endocrinology, INHIBIN B, TESTOSTERONE, Internal medicine, medicine, Humans, Klinefelter syndrome, Retrospective Studies, ADOLESCENT BOYS, 030219 obstetrics & reproductive medicine, TESTICULAR FUNCTION, business.industry, Delayed onset, androgens, Testosterone (patch), DELAYED PUBERTY, Luteinizing Hormone, Nomogram, FOLLICLE-STIMULATING-HORMONE, medicine.disease, spermatogenesis, 3121 General medicine, internal medicine and other clinical medicine, Female, sex chromosome disorder, HYPOGONADISM, medicine.symptom, Luteinizing hormone, business, Spermatogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::671c79f41bdb7262fb8ee6153698cfc6Test
https://doi.org/10.1111/cen.14588Test -
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المؤلفون: Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro
المساهمون: Serra, Gregorio, Giambrone, Clara, Antona, Vincenzo, Cardella, Francesca, Carta, Maurizio, Cimador, Marcello, Corsello, Giovanni, Giuffre, Mario, Insinga, Vincenzo, Maggio, Maria Cristina, Pensabene, Marco, Schierz, Ingrid Anne Mandy, Piro, Ettore
المصدر: Italian Journal of Pediatrics. 48
مصطلحات موضوعية: Chromosome Aberrations, Cholestasis, Hydrocortisone, Congenital hypopituitarism, Supernumerary marker chromosome, Chromosomes, Human, Pair 22, Chromosome Disorders, General Medicine, CES, Aneuploidy, Chromosome Aberration, Hypoglycemia, Hypopituitarism, Coloboma, Eye Abnormalitie, Chromosome Disorder, Cholestasi, Case report, Humans, Female, Eye Abnormalities, Neonatal hypoglycemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51b0c3663452455b41cbbbde15a02abbTest
https://doi.org/10.1186/s13052-022-01365-9Test -
9دورية أكاديمية
المؤلفون: Maruotti GM, Saccone G, Ciardulli A, Mazzarelli LL, Berghella V, Martinelli P
المساهمون: Maruotti, Gm, Saccone, G, Ciardulli, A, Mazzarelli, Ll, Berghella, V, Martinelli, P
مصطلحات موضوعية: Ductus venosus agenesi, prenatal diagnosi, ultrasonography, Abnormalities, Multiple, Adult, Chromosome Disorder, Female, Fetal Heart, Human, Infant, Newborn, Karyotyping, Pregnancy, Retrospective Studie, Tertiary Care Center, Prenatal, Vascular Malformation, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000432701000019; volume:31; issue:18; firstpage:2478; lastpage:2483; numberofpages:6; journal:THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE; http://hdl.handle.net/11588/724512Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055597163
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مصطلحات موضوعية: Post-Graduate Training Of Pharmacists, UV radiation, Presymptomatic Treatment, Prevention, Plasticized Toys, Polio, Polydrug Use, Polypharmacy, Prevention Of Type 2 Diabetes, Primary Care, Ost, Osteogenesis Imperfecta, Organ Transplantation, Orhpan Disease, Oral Chemotherapy, Organ Donation, One Health, Ophthalmology, Odontologic Disorders, Odontology, Heart, Hearing loss, Healthcare-associated infections, Healthcare costs, Hearing, Healthy Diet, Health safety and security, Health education, Health-Care Associated Infections, Health system, Myelodysplastic Syndromes, Myeloproliferative Disorders, Neuro-Ophthalmology, Neuro-Opthalmology, Neurodevelopment, Neurological diseases and disorders, Neuromuscular Diseases, Neuropathology, Neurophysiology, New Care Pathways, Transition Care, Trans-Border Care, Tobacco, Tissues and Cells, Tissues And Cells Donation, Tissues, Training Of Healthcare Professionals, Toxoplasmosis, Tobacco Products Directive, Tobacco Control, Cystinosis, Dementia, Craniosynostosis, Cross Border Health, Craniofacial, Craniofacial Microsomia, Cryptosporidiosis, Cystic Fibrosis, Cross Border Health Care, Cross Border Healthcare, Autoinflammation, Autoimmunity, Asperger, Asbestos, Aplastic Anemia, Antimicrobial Resistance, Autoimmune Disease, Auto-Immune Skin Diseases, Autism, Asthma, Therapeutic Patient Education, Tissue, Thalassemia, Therapeutic Education, Tertiary care, Tetanus, Syphilis, Targeted Health Promotion Strategies, Sustainable Healthcare Systems, Sustainable Patient Organisations, Plague, Physical disability, Phenotype, Pharmacy, Physical agents, Physical Activity, Pharmaceutical Care Tools, Pharmaceutical, Pharmaceuticals, Pharmaceutical Competence, Pregnant, eHealth, Coordinated Care, Contraception, Complex Connective Tissue Diseases, Complex Autoimmune Connective Diseases, Complex Treatment, Complex Gastrointestinal Diseases, Congenital Malformation Syndromes, Congenital Malformation, Contamination of food and water, Consensus Building, Leptospirosis, Listeriosis, Laboratory Diagnostic, Laboratory Outbreak Response, Laboratory Preparedness, Legionnaires diseaese, Invasive pneumococcal disease, Involving People With Dementia, Ischaemic heart disease, Kidney, road traffic, Familial Cardiomyopathies, Familial Electrical Heart Disease, Facial Dysostosis, Facial Nerve Palsy, Evidenced Based Patient Empowerment Intervention, Facial Clefts, Epilepsy Surgery, Ern, Financing healthcare, Frailty, Eip-Aha, Ehealth Network, Eating disorders, Early warning systems, Emerging And Re-Emerging Pathogens, Emergent pathogens, Elderly, Eipaha, Epilepsy, Encephaloceles, skin, telemedecine, Helping Consumers With The Cross-Border Complaints And Promotion Of The Ecc Slovakia, Alpha1 antitrypsin deficiency, Alzheimer, Alzheimer Disease, Amr, Alcohol, Alcohol Related Harms, Alcohol Strategy, Allergies, Anorexia, Anthrax, Secondary care, Screenings, Screening, School Health, Schizophrenia, Salmonellosis, STIs and Blood borne infections, Rubella, Sensorial Characteristics, Selective Prevention, Rare Kidney Diseases, Rare Hereditary Metabolic Disorders, Rare Endocrine Conditions, Rare Endocrine Condition, Rare Epilepsies, Rare Endocrine Disease, Rare Heart Disease, Rare Eye Diseases, Rare Hereditary Connective Tissue Diseases, Rare Hereditary Connective Diseases, Resilient Health System, Research And Collection Of Patient Data, Comorbidity, Refugees, Retina, Respiratory tract infections, Respiratory, Resilient Health Systems, Co-Morbidity, Health Promotion, Clinical Practice Guidelines, Clinical Test, Communicable Diseases, Community Health, Collaboration On Key Aspects Of Dementia Diagnosis, Colorectal, campylobacteriosis, MSM, M-Health, Maternal And Perinatal Healthcare, Malaria, Low Vision, Liver, Lymphoma, Lung, Medical Device, Measles, Tularemia, Tumour, Transitional Care, Transplantation, Treatment, Treatment And Support, Trichinellosis, Tuberculosis, Tubulopathies, Tularaemia, Health Professionals, Health Policy, Health Literacy, Health Inequities, Health Inequalities, Health In All Policies, Health Effect, Health Economic Assessment., Health Economic Assessment, Health Data Availability, Health Research, Health Security, Health Programs, suicide, Health Technology Assessment, Health Workforce, Health Systems, Health Technology, Health accounts, Health at work, overdose, Healthcare, Acute Leukemia, Achondroplasia, Adolescents, Adherence To Chemotherapy, Affordable Access To Needed Medicines, Adult Endocrinology, Aids, Ageing, Patient-Centredness, Patient-Centric Care, Patient Safety, Patient-Centred Network, Patients rights, Pediatric Ophtalmology, Patients Access To Medicines, Patients registries, Pediatric Ophthalmology, Person-Centered Integrated Care, Hematopoioetic Stem Cell, Heavy Episodic Drinking, Hemophilia, Hemoglobinopathies, Hepatitis A, Hepatitis, Hepatitis C, Hepatitis B, Hereditary Metabolic Diseases, Hereditary Cancer, Ciliopathies, Chronic pulmonary diseases, Chronic kidney diseases, Chronic Renal Failure, Chronic Diseases, Chronic Disease Challenge, Cholera, Chlamydia, Clinical Outcomes, Clinical Guidelines, salmonellosis, Donor Protection, Donor Selection, Drinking Environments, Droughts, Drug Prevention Quality Standards, Drug Side-Effects, Drugs and substance misuse, E-Health, Early Detection, Early Dialougues, Shigellosis, Skeletal Dysplasia, Skin Diseases Network, Skin Tumours, Severe Drug Side-Effect, Sex workers, Sexual and reproductive health, Sexual orientation, Smoking, Smoking Cessation, Patient Rights, Patient Representatives, Patient Empowerment, Patient Advocacy, Parkinsons disease, Parent Integration, Patient Pathways, Patient Organisation, Patient Involvement, Patient Engagement, Protection, Rare Disease, Rare Diseases, Rare Chromosome Disorder, Rare Chromosome Disorders, Rare Cancer, Rare Cardiac Disease, Rare Autoimmune, Rare Autoimmune Connective Diseases, Rabies, Rare Adult Cancers, Rare Multisystemic Vascular Diseases, Rare Neurological Diseases, Rare Neuromuscular Diseases, Rare Retinal Diseases, Rare Skin Disorders, Rare diseases and disorders, Rareendoern, Rational Use Of Medicines, Re-Sterilizable Medical Device, Reduce Health Inequalities, Cardiovascular Diseases, Cardiovascular Disorders, Migrants, Migration, Care Integration, Care Standards, Cell, Cervical, Men who have sex with men, Children From Families With Alcohol Problems, Medical devices, Medicine, Mental diseases and disorders, Metabolism, Mental Disorders, Mental Health, Viruses, Virtual Clinic, Variant Creutzfeld-Jakob disease, Vaccine-preventable diseases, Viral Haemorrhagic fevers, Vascern, Typhoid fever, Tumour Boards, Vaccination, Underage Drinking, Health Care Workers, Health Data, Health And Social Care Systems, Health Assessment, Health Care, Health Care Appropriateness, Germline Mutation Directed Treatment, Grow Organic Sales, HIV, Harm Reduction, Database, Qfever, Pwid, Public Health Policies, Public Health, Psychological distress, Prisoners, Primary Immunodeficiencies, Primary Health Care, Quality Of Life, Quality Of Care, Improvement Of Survival Inequalities, Improving Health Policy, Imaging, Immigrants, Hospital, Hypertension, Highly Pathogenic Agent, Highly Specialised Healthcare Providers, Inclusive Sustainable Patient Organisations, Increase Access To Needed Medicines, Obesity, Nutritional deficiencies, Viral Hepatitis, New Psychoactive Substances, New Models Of Medical Innovation, Non chronic diseases, Newborn and perinatal health, Non- Discrimination Due To Health Status, Non communicables diseases, Nutritional Information, Nutrition, Multimorbidity, Movement, Mood anxiety disorders, Models Of Care, Mumps, Multiple sclerosis, Multiple Anomaly Syndrome, Multiorgan, Musculo skeletal conditions, Muscular Dystrophy, Cardiovascular, Cancer Screening, Cancer, Campylobacteriosis, Cancer Prevention, Cancer Control Plans, Brief interventions, Care, Bulimia, Brucellosis, Care Guidelines, Breast, Diabetes Mellitus, Child Age Determination, Dialysis, Diagnosis, Democratisation Of Medicines Policy, Dementia Strategies, Dermatological diseases, Menongoccal disease, Diphtheria, Dietary patterns, Sustainability Of Health Systems, Sustainability Of Health, Standardization Of Care, Smoking Prevention, Stomach, Standards Of Care, Stroke, Strengthening Health Systems, Sudden Cardiac Death., Substances Of Human Origin, Palliative care, Parasites, Other specific diseases, Overweight, Paediatric, Paediatric Cancer Network, Paediatric Endocrinology, Paediatric Oncology, Paediatric Trasnplantation, Paediatrics, Invasive Haemophilus influenzae disease, Intestine, Intellectual Disability, Integrated Perinatal Healthcare Model, Integrated Care, Injuries, Injecting Drug Use, Infrastructure For Diagnosis, Influenza, Increase Understanding Of Organic, Diabetes, Refugees And Other Migrants, Complementary and alternative medicines, Gastro intestinal diseases, Frailty Risk Factors, Genetic Counseling, Genetic, Genetic Disease, Genetic Diagnostics, Genetic Testing, Genetic Diseases, Genodermatoses, Genetics, Dental and oral diseases, Code Against Cancer, Risk-Reducing Surgery, Revalidation, Border Health Threats, Botulism, Blood transfusion, Bone, Blood Donation, Blood and Blood components, Birth Defects, Blood, Bacteria, Biological agents, Health, sexual behaviour and reproduction, self harm, prostate, pertussis, non Alzheimer, domestic, cholesterol, cell and organ transplants, blood borne infections, binch drinking, Vulnerable Migrants And Refugees, Well Being, Vulnerable Groups, Vulnerable Migrants, Yellow fever, Yersiniosis, West Nile fever, X-Linked Hypophosphatemia, Youth Experience Related To Drinking, ageing workforce