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1
المؤلفون: João, AL, Antunes, D, Cordeiro, AI, Paiva Lopes, MJ
المصدر: Portuguese Journal of Dermatology and Venereology. 80
مصطلحات موضوعية: HSAC DER, Ectodermal Dysplasia, HDE PED, HDE GEN, Genodermatosis, Genetic Testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a0f96cc96867100fb45761bb35c3ee1
https://doi.org/10.24875/pjdv.22000002 -
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المؤلفون: Joana Soares, Marta Amorim, Catarina Limbert, Rita Valsassina, Filipa Briosa
المصدر: Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 12, Pp 3125-3128 (2020)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Medicine (General), medicine.medical_specialty, HDE GEN, Case Report, Case Reports, Heterozygous mutations TACR3, Compound heterozygosity, R5-920, HDE END PED, Hypogonadotropic hypogonadism, Internal medicine, medicine, genetics, pediatrics and adolescent medicine, endocrinology and metabolic disorders, business.industry, Hypogonadism, Siblings, Hypogonadotropic, General Medicine, medicine.disease, Endocrinology, Medicine, Congenital Hypogonadotropic Hypogonadism, business
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3
المؤلفون: Joana Tavares, Diana Antunes, Mamede de Carvalho, Ana Catarina Pronto-Laborinho, Marta Gromicho, Rita Raposeiro, Ana Coutinho
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Population, HDE GEN, Disease, Biology, TARDBP, 03 medical and health sciences, 0302 clinical medicine, C9orf72, mental disorders, medicine, Humans, 030212 general & internal medicine, Amyotrophic lateral sclerosis, education, Genetics, education.field_of_study, DNA Repeat Expansion, C9orf72 Protein, Portugal, Amyotrophic Lateral Sclerosis, High-Throughput Nucleotide Sequencing, Neurodegenerative Diseases, medicine.disease, Genetic architecture, Neurology, Frontotemporal Dementia, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Frontotemporal dementia
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المؤلفون: Susana Abreu, Diana de Oliveira Antunes, Fátima Abreu
المصدر: Portuguese Journal of Pediatrics; Vol. 52 No. 3 (2021)
Portuguese Journal of Pediatrics; Vol. 52 N.º 3 (2021)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 52, Iss 3 (2021)مصطلحات موضوعية: Medicine (General), Respiratory Distress Syndrome, Newborn/etiology, Infant, Newborn, HDE GEN, ATP Binding Cassette Transporter, Subfamily A/genetics, HSM CAR, Pediatrics, RJ1-570, Lung Diseases, Interstitial/ etiology, Lung Diseases, Interstitial/mortality, R5-920, Lung Diseases, Interstitial/diagnosis, HDE PNEU, Pulmonary Surfactant-Associated Proteins/genetics, ATP Binding Cassette Transporter, Subfamily A/deficiency
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5902cc960bee5957e3b266a426269864
https://pjp.spp.pt/article/view/20929 -
5
المؤلفون: Joana Branco, Marta Amorim, Marta Conde
المصدر: European Journal of Medical Genetics. 65:104534
مصطلحات موضوعية: HDE GEN, Haploinsufficiency, General Medicine, Arthritis, Juvenile, Musculoskeletal Abnormalities, HDE REUM PED, Phenotype, Limited range of motion, Intellectual Disability, Mutation, HDE PED, Genetics, Humans, Female, Juvenile Idiopathic Arthritis, DeSanto-Shinawi Syndrome, Genetics (clinical)
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المؤلفون: Pereira, Susana, Nunes, Sofia, Mariano, Marta, Sousa, Herédio, Lavra, Tânia, Kay, Teresa, Barros, Ezequiel
المصدر: Portuguese Journal of Otorhinolaryngology and Head and Neck Surgery; Vol. 59 No. 2 (2021): June; 139-146
Revista Portuguesa de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço; Vol. 59 Núm. 2 (2021): Junho; 139-146
Revista Portuguesa de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço; v. 59 n. 2 (2021): Junho; 139-146مصطلحات موضوعية: HDE ORL, deafness, otorhinolaryngologic diseases, cochlear implant, HDE GEN, HSJ ORL, Criança, genetic, Implante coclear, Surdez, Genética
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edaf76e55d1b3b6a5e40895c56d0279b
https://hdl.handle.net/10400.17/4338 -
7
المؤلفون: Mariano, Marta, Correia, Isabel, Nunes, Sofia, Cunha, Inês, Sousa, Herédio, Kay, Teresa, Barros, Ezequiel
مصطلحات موضوعية: Potenciais evocados auditivos do tronco cerebral, HDE ORL, Distúrbio do Espectro da Neuropatia Auditiva, Hipoacusia sensorioneural, HDE GEN, HSJ ORL, Criança, Rastreio auditivo neonatal universal, Otoemissões acústicas
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3765e9d94ffc10a1254c37a419e897b8
https://hdl.handle.net/10400.17/4337 -
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المؤلفون: João Parente Freixo, Telma Francisco, Helena Sousa, Margarida Abranches, Lia Mano, Sara Rocha, Patrícia Maio, Rute Baeta Baptista
المصدر: Brazilian Journal of Nephrology, Issue: ahead, Published: 04 SEP 2020
Brazilian Journal of Nephrology, Volume: 43, Issue: 2, Pages: 279-282, Published: 04 SEP 2020
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Jornal Brasileiro de Nefrologia
Brazilian Journal of Nephrology, Vol 43, Iss 2, Pp 279-282 (2020)
Brazilian Journal of Nephrology v.43 n.2 2021
Sociedade Brasileira de Nefrologia (SBN)
instacron:SBNمصطلحات موضوعية: medicine.medical_specialty, PHEX, Hypophosphatemia, Hypophosphatemic, 030232 urology & nephrology, HDE GEN, Rickets, Case Report, medicine.disease_cause, HDE NEF PED, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Raquitismo hipofosfatêmico, medicine, HDE PED, Humans, Family history, Child, Mutação, 030304 developmental biology, 0303 health sciences, Mutation, business.industry, General Medicine, medicine.disease, PHEX Phosphate Regulating Neutral Endopeptidase, Diseases of the genitourinary system. Urology, Elevated alkaline phosphatase, Rickets, Hypophosphatemic, Hypophosphatemic Rickets, X-linked hypophosphatemic rickets, Endocrinology, Child, Preschool, Failure to thrive, Female, RC870-923, Familial Hypophosphatemic Rickets, Bone Diseases, medicine.symptom, business
وصف الملف: text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf8ccab7b9f1ddcc2784587f2cfa743a
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020005031201&lng=en&tlng=en -
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المؤلفون: Marta Amorim, Dinorah Cardoso, Marisa Braga da Cruz, Susana Nobre, Inês Ganhão, Catarina Borges, Margarida Abranches, Telma Francisco
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Transplantation, medicine.medical_specialty, business.industry, Urology, Renal lithiasis, HDE GEN, urologic and male genital diseases, Stage renal disease, medicine.disease, HDE NEF PED, Primary hyperoxaluria, HDE CIR PED, medicine, business, AGXT gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fac120a214ce0d864be96c345e3486c4
https://doi.org/10.32932/pjnh.2020.04.064 -
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المؤلفون: Salomé de Almeida, Patrícia Mendes, José M. Inácio, Rui Anjos, José António Belo, Duarte Martins, José Maio, Fernando Cristo
المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), Centro de Estudos de Doenças Crónicas (CEDOC)
المصدر: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
BMC Medical Genetics
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAPمصطلحات موضوعية: Allelic variation, 0301 basic medicine, Heart Septal Defects, Ventricular, Male, congenital heart malformation, Heart disease, 030204 cardiovascular system & hematology, 0302 clinical medicine, single nucleotide polymorphism, genetics, Nodal signaling pathway, DAND5 protein, human, pathophysiology, Genetics (clinical), Tetralogy of Fallot, Congenital Heart Diseases, allelic variation, laterality defects, 3. Good health, female, Phenotype, genetic association study, Cardiology, Intercellular Signaling Peptides and Proteins, Female, Pulmonary atresia, signal transduction, Signal Transduction, Research Article, Heart Defects, Congenital, medicine.medical_specialty, lcsh:Internal medicine, Genotype, lcsh:QH426-470, phenotype, Nodal Protein, HDE GEN, protein Nodal, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Laterality defects, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Right ventricular hypertrophy, Internal medicine, heart septum defect, Genetics, medicine, Genetic predisposition, Humans, signal peptide, Genetic Predisposition to Disease, human, lcsh:RC31-1245, Genetic Association Studies, Nodal signaling, medicine.disease, lcsh:Genetics, 030104 developmental biology, Endocrinology, DAND5, Mutation, Overriding aorta, genetic predisposition, NODAL protein, human
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