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1دورية أكاديمية
المؤلفون: Lukas Plachy, Lenka Petruzelkova, Petra Dusatkova, Klara Maratova, Dana Zemkova, Lenka Elblova, Vit Neuman, Stanislava Kolouskova, Barbora Obermannova, Marta Snajderova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
المصدر: Endocrine Connections, Vol 12, Iss 10, Pp 1-8 (2023)
مصطلحات موضوعية: familial short stature, next-generation sequencing, growth plate disorders, gh treatment, predictors of monogenic short stature, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2
المؤلفون: Ledjona Toni, Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Lenka Elblova, Zdenek Sumnik, Stanislava Kolouskova, Marta Snajderova, Barbora Obermannova, Stepanka Pruhova, Jan Lebl
المصدر: Hormone Research in Paediatrics.
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0f11a089c3c0a0388e195363a069b998
https://doi.org/10.1159/000530521 -
3Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young
المؤلفون: Petra Dusatkova, Marketa Pavlikova, Lenka Elblova, Vladyslav Larionov, Klara Vesela, Katerina Kolarova, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova
المصدر: Acta diabetologica. 59(9)
مصطلحات موضوعية: Endocrinology, Phenotype, Diabetes Mellitus, Type 2, Endocrinology, Diabetes and Metabolism, Mutation, Internal Medicine, Humans, General Medicine, Genetic Testing
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المؤلفون: Stanislava Kolouskova, Jan Lebl, Zdenek Sumnik, Lukas Plachy, Stepanka Pruhova, Marta Snajderova, Lenka Petruzelkova, Lenka Elblova, Petra Dusatkova, Ledjona Toni, Petra Kucerova, Klara Maratova, Dana Zemkova
المصدر: The Journal of Clinical Endocrinology & Metabolism. 105:e746-e752
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Adolescent, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Dwarfism, Context (language use), Single Center, Polymorphism, Single Nucleotide, Biochemistry, Short stature, Cohort Studies, Young Adult, Endocrinology, Internal medicine, Natriuretic peptide, medicine, Humans, Child, Human Growth Hormone, business.industry, Biochemistry (medical), Infant, Prognosis, medicine.disease, NPR2, Body Height, Growth hormone treatment, Phenotype, Dysplasia, Child, Preschool, Medical genetics, Female, medicine.symptom, business, Receptors, Atrial Natriuretic Factor, Biomarkers, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::050785e307eea9bb2fe92aa193d5f2ab
https://doi.org/10.1210/clinem/dgaa037 -
5
المؤلفون: Zdenek Sumnik, Jan Lebl, Lenka Petruzelkova, Dana Zemkova, Marta Snajderova, Stanislava Kolouskova, Stepanka Pruhova, Klara Maratova, Petra Dusatkova, Lenka Elblova, Barbora Obermannova, Lukas Plachy
المصدر: The Journal of Clinical Endocrinology and Metabolism
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Treatment response, Adolescent, Databases, Factual, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Collagen Type XI, Biochemistry, Gastroenterology, Short stature, Growth velocity, Young Adult, Endocrinology, Internal medicine, medicine, Humans, Growth Plate, Child, Online Only Articles, Genetic Association Studies, Growth Disorders, Czech Republic, Retrospective Studies, Familial short stature, Human Growth Hormone, business.industry, Biochemistry (medical), Letters to the Editor Responses, medicine.disease, Phenotype, Growth hormone treatment, Dysplasia, Child, Preschool, Medical genetics, Female, Collagen, medicine.symptom, business, AcademicSubjects/MED00250
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e28ed03437a50b47bdcafb172aad569
https://doi.org/10.1530/ey.18.4.14 -
6
المؤلفون: Petra Dusatkova, Dana Zemkova, Marta Snajderova, Jan Lebl, Stepanka Pruhova, Lukas Plachy, Stanislava Kolouskova, Veronika Strakova, Barbora Obermannova, Lenka Elblova, Zdenek Sumnik
المصدر: The Journal of Clinical Endocrinology & Metabolism. 104:4273-4281
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), Severity of Illness Index, Biochemistry, Short stature, Receptor, IGF Type 1, Cohort Studies, Endocrinology, Internal medicine, Exome Sequencing, Genetic variation, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Genetic Predisposition to Disease, FLNB, Clinical significance, Growth Plate, Prospective Studies, Child, Growth Disorders, Czech Republic, Human Growth Hormone, business.industry, Biochemistry (medical), Genetic Variation, Infant, Metalloendopeptidases, Prognosis, medicine.disease, Pedigree, Treatment Outcome, Child, Preschool, Etiology, Small for gestational age, Medical genetics, Female, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54a713f012222452f0883e4882da2d66
https://doi.org/10.1210/jc.2018-02288 -
7
المؤلفون: Lenka Elblova, Stepanka Pruhova, Lukas Plachy, Petra Dusatkova, Lenka Petruzelkova, Jan Lebl, Zdenek Sumnik
المصدر: The Journal of Clinical Endocrinology & Metabolism. 107:e445-e446
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Letter to the editor, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biology, Biochemistry, Phenotype, Endocrinology, Internal medicine, medicine, Familial short stature
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b5f37cbec4a2d17f7d0ee8e72eda0f5
https://doi.org/10.1210/clinem/dgab665 -
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المؤلفون: Stepanka Pruhova, Stanislava Kolouskova, Marta Snajderova, Maratova K, Jan Lebl, Toni L, Lenka Elblova, Lenka Petruzelkova, Plachy L, Sumnik Z, Kucerova P, Daniela Zemkova, Petra Dusatkova
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, Growth hormone, business, NPR2, Familial short stature
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69a50e760381580e681bcafe080becad
https://doi.org/10.1530/ey.17.4.11 -
9
المؤلفون: Tara Hussein Tayeb, Jan Lebl, Stepanka Pruhova, Shenali Anne Amaratunga, Lenka Elblova, Petra Dusatkova
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Genetics, Pediatric Endocrinology, Endocrinology, Diabetes and Metabolism, Key (cryptography), Pediatric Endocrinology: Growth and Development, Biology, Gene, AcademicSubjects/MED00250
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad9f392af91c165325d1e3107652672d
http://europepmc.org/articles/PMC8265972 -
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المؤلفون: Jan Lebl, Shenali Anne Amaratunga, Marta Snajderova, Barbora Obermannova, Stepanka Pruhova, Stanislava Kolouskova, Ledjona Toni, Lenka Elblova, Zdenek Sumnik, Petra Dusatkova, Lukas Plachy
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Short stature, Pediatric Endocrinology, Etiology, Medicine, Small for gestational age, medicine.symptom, business, Growth and Growth Hormone, AcademicSubjects/MED00250
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bef5cf84d1c844769014e255a63c720
http://europepmc.org/articles/PMC8090705