المؤلفون: Frits A. Wijburg, Joseph Muenzer, Nathalie Guffon, Hillary A. Keenan, Simon Jones, Lorne A. Clarke, David Viskochil, Chester B. Whitley, Maria Veronica Munoz-Rojas, Torayuki Okuyama, Roberto Giugliani

المساهمون: ARD - Amsterdam Reproduction and Development, Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism

المصدر: Clinical Genetics
Clinical genetics, 96(4), 281-289. Wiley-Blackwell

مصطلحات موضوعية: 0301 basic medicine, Male, Mucopolysaccharidosis, Mucopolysaccharidosis I, 030105 genetics & heredity, Global Health, Severity of Illness Index, Iduronidase, Genotype, Medicine, Missense mutation, Registries, Hurler syndrome, skin and connective tissue diseases, Child, Genetics (clinical), genotype‐phenotype, hurler syndrome, High-Throughput Nucleotide Sequencing, mucopolysaccharidosis, Middle Aged, metabolic disease, Phenotype, lysosomal storage disease, Child, Preschool, lysosome, Original Article, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 03 medical and health sciences, Mucopolysaccharidosis type I, Young Adult, Genetics, Humans, Genetic Predisposition to Disease, Allele, Scheie syndrome, Alleles, Genetic Association Studies, business.industry, Infant, Newborn, nutritional and metabolic diseases, Infant, Original Articles, medicine.disease, 030104 developmental biology, Immunology, Mutation, Age of onset, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f915517260cb11c719409c6b5b4990Test
http://europepmc.org/articles/PMC6852151Test

المؤلفون: Raffaella Colombatti, Wilma Barcellini

مصطلحات موضوعية: Hereditary haemolytic anaemias, biology, business.industry, Parvovirus, Erythema Infectiosum, Anemia, Hematology, Parvovirus B19, biology.organism_classification, Anemia, Hemolytic, Congenital, Virology, Parvoviridae Infections, Congenital, Humans, Parvovirus B19, Human, Medicine, business, Hemolytic, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdfc852ba88179d3a918d5e525dc553Test
http://hdl.handle.net/11577/3415183Test

المؤلفون: Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.

المصدر: Clinical Genetics

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Anencephaly, targeted exome sequencing, Skull, Epistasis, Genetic, Original Articles, Disease Models, Animal, Mice, Phenotype, neural tube defects, Pregnancy, molecular diagnosis, Mutation, Exome Sequencing, Animals, Humans, Original Article, Female, craniorachischisis, Spinal Dysraphism, Genetic Association Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::86ddd273e48df6708fbbe257974f6ba3Test
http://europepmc.org/articles/PMC5887939Test

المؤلفون: Sartori, RDG, Marelli, M, D'Angelo, MG, Delle Fave, A

المساهمون: Sartori, R, Marelli, M, D'Angelo, M, Delle Fave, A

مصطلحات موضوعية: experience sampling method, hereditary spastic paraplegia, neuromuscular disease, quality of experience

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31313875; info:eu-repo/semantics/altIdentifier/wos/WOS:000476137000001; volume:27; issue:5; firstpage:e850; lastpage:e860; journal:HEALTH & SOCIAL CARE IN THE COMMUNITY; http://hdl.handle.net/10281/261019Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85069817470; http://onlinelibrary.wiley.com/journal/10.1111Test/(ISSN)1365-2524

الإتاحة: https://doi.org/10.1111/hsc.12812Test
http://hdl.handle.net/10281/261019Test

المؤلفون: M. Masciullo, E. Cellini, Enzo Ricci, Anna Modoni, Alessia Perna, Elena Parrini, A. M. Donati, Gabriella Silvestri

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Hyperhomocysteinemia, Pediatrics, medicine.medical_specialty, 5 10 methylenetetrahydrofolate reductase, Betain, Methylenetetrahydrofolate reductase deficiency, Homocystinuria, Cerebral white matter disease, Complicated hereditary spastic paraplegia, Severe 5,10-methylenetetrahydrofolate reductase deficiency, Neurology, Neurology (clinical), Young Adult, 03 medical and health sciences, Mixed polyneuropathy, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Severe 5, 10-methylenetetrahydrofolate reductase deficiency, Methylenetetrahydrofolate Reductase (NADPH2), biology, Spastic Paraplegia, Hereditary, business.industry, Siblings, medicine.disease, digestive system diseases, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Psychotic Disorders, Muscle Spasticity, Methylenetetrahydrofolate reductase, biology.protein, Diagnostic assessment, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83fa03cb3d5bc338c209d32c2ddeeebTest
http://hdl.handle.net/10807/112401Test

المؤلفون: Esaie Soya, Caroline Makowski, Sophie Blaise

المصدر: Int Wound J

مصطلحات موضوعية: Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Dysfunctional family, Dermatology, Disease, Anemia, Sickle Cell, Hydroxycarbamide, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Antisickling Agents, Internal medicine, hemic and lymphatic diseases, Medicine, Humans, Hydroxyurea, 030212 general & internal medicine, Aggravating Factor, business.industry, Standard treatment, Leg Ulcer, Original Articles, Middle Aged, Haemolysis, medicine.disease, Comorbidity, Treatment Outcome, Surgery, business, Complication, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0bcdadff098eca16814c467d83ce481Test
https://europepmc.org/articles/PMC7949276Test/

المؤلفون: Ayna Sariyeva Ismayılov, Selcuk Sizmaz, Ayşe Nihal Demircan, Ebru Esen

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Male, choroidal thickness, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Visual acuity, genetic structures, Recombinant Fusion Proteins, Visual Acuity, Angiogenesis Inhibitors, neovascular age-related macular degeneration, 03 medical and health sciences, Macular Degeneration, 0302 clinical medicine, Ophthalmology, Age related, Medicine, Humans, Macula Lutea, Prospective Studies, Aflibercept, Aged, Aged, 80 and over, business.industry, Choroid, aflibercept, Macular degeneration, Middle Aged, medicine.disease, Choroidal Neovascularization, eye diseases, Receptors, Vascular Endothelial Growth Factor, Intravitreal Injections, 030221 ophthalmology & optometry, central macular thickness, Female, sense organs, medicine.symptom, business, 030217 neurology & neurosurgery, Tomography, Optical Coherence, Optometry, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::696fa6ba0971a25ec490d7f9bb88cc0cTest
https://hdl.handle.net/20.500.12605/10668Test

المؤلفون: Galuppini F., Opocher E., Tabori U., Mammi I., Edwards M., Campbell B., Kelly J., Viel A., Quaia M., Rivieri F., D'Avella D., Arcella A., Giangaspero F., Fassan M., Gardiman M. P.

المساهمون: Galuppini, F., Opocher, E., Tabori, U., Mammi, I., Edwards, M., Campbell, B., Kelly, J., Viel, A., Quaia, M., Rivieri, F., D'Avella, D., Arcella, A., Giangaspero, F., Fassan, M., Gardiman, M. P.

مصطلحات موضوعية: astrocytoma, brain neoplasm, cerebellar neoplasm, child, colorectal neoplasm, female, glioblastoma, human, isocitrate dehydrogenase, mutation, neoplasms multiple primary, neoplastic syndrome, hereditary

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29130549; info:eu-repo/semantics/altIdentifier/wos/WOS:000425641000011; volume:44; issue:2; firstpage:233; lastpage:239; numberofpages:7; journal:NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY; http://hdl.handle.net/11573/1301661Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042370767

الإتاحة: https://doi.org/10.1111/nan.12450Test
http://hdl.handle.net/11573/1301661Test

المؤلفون: Perna, A., Masciullo, M., Modoni, A., Ricci, E., Silvestri, G.

المساهمون: Perna, Alessia, Masciullo, Marcella, Modoni, Anna, Cellini, E., Parrini, E., Ricci, Enzo, Donati, A. M., Silvestri, Gabriella

مصطلحات موضوعية: Betain, Cerebral white matter disease, Complicated hereditary spastic paraplegia, Hyperhomocysteinemia, Severe 5,10-methylenetetrahydrofolate reductase deficiency, Neurology, Neurology (clinical), Settore MED/26 - NEUROLOGIA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29284203; info:eu-repo/semantics/altIdentifier/wos/WOS:000425631500030; volume:25; issue:3; firstpage:602; lastpage:605; numberofpages:4; issueyear:2018; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/10807/112401Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041140274; http://www.wiley.com/bw/journal.asp?ref=1351-5101&site=1Test

الإتاحة: https://doi.org/10.1111/ene.13557Test
http://hdl.handle.net/10807/112401Test
http://www.wiley.com/bw/journal.asp?ref=1351-5101&site=1Test

المؤلفون: Eva Galletta, Viviana Daidone, Alessandra Casonato, L. Sarolo

مصطلحات موضوعية: Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, von Willebrand Disease, Type 2, 030204 cardiovascular system & hematology, von Willebrand factor, Polymorphism, Single Nucleotide, Gastroenterology, Asymptomatic, VWF gene mutation, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Von Willebrand factor, hemic and lymphatic diseases, Internal medicine, Prevalence, Von Willebrand disease, Humans, Medicine, type 2N von Willebrand disease, education, Alleles, Genetics (clinical), education.field_of_study, Factor VIII, biology, business.industry, Heterozygote advantage, General Medicine, Hematology, medicine.disease, VWF FVIII binding, cardiovascular system, biology.protein, Female, Partial Thromboplastin Time, medicine.symptom, business, Protein Binding, circulatory and respiratory physiology, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7797eb1bb56ccba406312cfd0aa0cb1Test
http://hdl.handle.net/11577/3269760Test