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1دورية أكاديمية
المؤلفون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)
مصطلحات موضوعية: NF1 gene, Genotype-phenotype correlation, New mutation, NF1 microdeletion syndrome, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13052-018-0483-zTest; https://doaj.org/toc/1824-7288Test
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2دورية أكاديمية
المؤلفون: Ben Fredj, D., Barro, C., Joly, P., Thomassin, N., Collardeau-Frachon, S., Plantaz, D., Adjaoud, D.
المساهمون: Laboratoire d'Hématologie, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Université Savoie Mont Blanc (USMB Université de Savoie Université de Chambéry ), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Arch. Pediatr. ; https://hal.science/hal-02466189Test ; Arch. Pediatr., 2019, 26 (6), pp.370--373. ⟨10.1016/j.arcped.2019.05.005⟩
مصطلحات موضوعية: Pediatrics, Hemolysis, Cholestasis, G6PD deficiency, g6pd mutations, Hyperbilirubinemia, Liver insufficiency, New mutation, [SDV]Life Sciences [q-bio]
العلاقة: hal-02466189; https://hal.science/hal-02466189Test; https://hal.science/hal-02466189/documentTest; https://hal.science/hal-02466189/file/S0929693X19300934.pdfTest; PII: S0929-693X(19)30093-4
الإتاحة: https://doi.org/10.1016/j.arcped.2019.05.005Test
https://hal.science/hal-02466189Test
https://hal.science/hal-02466189/documentTest
https://hal.science/hal-02466189/file/S0929693X19300934.pdfTest -
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المؤلفون: Dou Shuixiu, Jianping Xu, Jiafu Ou, Faping Cui
المصدر: Advanced Ultrasound in Diagnosis and Therapy, Vol 5, Iss 3, Pp 249-253 (2021)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, S syndrome, business.industry, echocardiography|marfan syndrome|fbn1 genes|new mutation, General Medicine, Gene mutation, cardiovascular system, Medical technology, Medicine, cardiovascular diseases, R855-855.5, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caaf87471c876035b6f2d64ae711c19bTest
http://www.journaladvancedultrasound.com:81/fileup/2576-2516/PDF/1630472707273-1791981006.pdfTest -
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المؤلفون: Marcelo Leonardo Nenkies, Diana Noemi Garcia de Paoletti, Hugo A. Guglielmone, Antonio Girolami, Silvia Ferrari
المصدر: Cardiovascular & Hematological Disorders-Drug Targets. 19:169-173
مصطلحات موضوعية: Pharmacology, Pediatrics, medicine.medical_specialty, business.industry, Factor X, Heterozygote advantage, Hematology, General Medicine, Factor X deficiency, Compound heterozygosity, Asymptomatic, chemistry.chemical_compound, Exon, chemistry, Mutation (genetic algorithm), New mutation, medicine, Molecular Medicine, medicine.symptom, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9cfacc9aadff857b6a58b4483749bcd8Test
https://doi.org/10.2174/1871529x19666181212103944Test -
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المؤلفون: Virginia Fano, Karen E. Heath, Mariana del Pino, David Medino-Martín, Abel Gomez, Miriam Aza-Carmona, María Gabriela Obregon
المصدر: J Pediatr Genet
مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, 030305 genetics & heredity, medicine.disease, Sitting height, 03 medical and health sciences, Shox gene, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, New mutation, Cohort, Medicine, SHOX Deficiency, Growth delay, business, Léri–Weill dyschondrosteosis, 030217 neurology & neurosurgery, Genetics (clinical), Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b503a5e02233843fe4d4c7ec1e2c6331Test
https://doi.org/10.1055/s-0039-1691788Test -
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المؤلفون: Zeel Shah
المصدر: Research & Reviews: Journal of Neuroscience.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.drug_class, business.industry, Gross motor skill, Genetic disorder, Head growth, Hyperammonemia, Rett syndrome, medicine.disease, Sedative, New mutation, medicine, business, X chromosome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d1054758977bced2255efd26e0cf7863Test
https://doi.org/10.37591/rrjon.v11i1.2463Test -
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المصدر: Acta Neurologica Belgica. 120:705-707
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, MCARDLE DISEASE, business.industry, MEDLINE, General Medicine, 03 medical and health sciences, 0302 clinical medicine, New mutation, medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::458f810c95bbbfea1e7e05680230ab47Test
https://doi.org/10.1007/s13760-019-01159-7Test -
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المؤلفون: P. Joly, Dominique Plantaz, S. Collardeau-Frachon, D. Adjaoud, N. Thomassin, C. Barro, D. Ben Fredj
المساهمون: Laboratoire d'Hématologie, CHU Grenoble, Laboratoire Interuniversitaire de Biologie de la Motricité (LIBM ), Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry])-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL)
المصدر: Arch. Pediatr.
Arch. Pediatr., 2019, 26 (6), pp.370--373. ⟨10.1016/j.arcped.2019.05.005⟩مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Dehydrogenase, macromolecular substances, Gene mutation, Glucosephosphate Dehydrogenase, Pediatrics, Hemolysis, 03 medical and health sciences, g6pd mutations, 0302 clinical medicine, Cholestasis, 030225 pediatrics, Internal medicine, hemic and lymphatic diseases, G6PD deficiency, parasitic diseases, medicine, Hepatic Insufficiency, Humans, Neonatal cholestasis, Hyperbilirubinemia, Liver injury, business.industry, New mutation, Infant, Newborn, Liver insufficiency, nutritional and metabolic diseases, medicine.disease, 3. Good health, Endocrinology, Glucosephosphate Dehydrogenase Deficiency, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, business, Glucose-6-phosphate dehydrogenase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0bf9855aceec81cfce56b5a94fdcbeaTest
https://hal.archives-ouvertes.fr/hal-02466189Test -
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المؤلفون: Marques Js
المصدر: Open Access Journal of Endocrinology. 2
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, New mutation, Congenital hyperinsulinism, Medicine, business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::13f476369747ce2632f62e785c2635d8Test
https://doi.org/10.23880/oaje-16000118Test -
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المصدر: Neurología. 33:618-619
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Text mining, business.industry, Wolfram syndrome, Diabetes mellitus, New mutation, Clinical Neurology, MEDLINE, Medicine, Neurology (clinical), business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2729db391a9e578dcc3ba02f9f4d281fTest
https://doi.org/10.1016/j.nrl.2016.06.003Test