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Purificação Tavares
Observed names:
PURIFICAÇÃO TAVARES,
Purificacao Tavares,
Purificação TAVARES,
Tavares, Purificação
Institution:
Centro de Genética Clínica
Observed institutions:
Universidade do Porto,
Unidade Local de Saúde de Coimbra,
Hospital de São João,
Centro de Genética Clínica,
Hospital Braga
OpenAlex ID:
A5112695100
Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome
2007
·
Jan D. Marshall
, Elizabeth G. Hinman
, et al.
·
Human Mutation
·
153
PDF
Developmental absence of maxillary lateral incisors in the Portuguese population
2005
·
Teresa Pinho
, Purificação Tavares
, et al.
·
European Journal of Orthodontics
·
121
PDF
Development of imatinib and dasatinib resistance: dynamics of expression of drug transportersABCB1, ABCC1, ABCG2, MVP, and SLC22A1
2011
·
Marta Gromicho
, Joana Dinis
, et al.
·
Leukemia & lymphoma/Leukemia and lymphoma
·
67
Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib
2012
·
MARTA GROMICHO
, MARTA MAGALHÃES
, et al.
·
Oncology Reports
·
41
PDF
Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies
2013
·
Pedro Mariano Pereira
, Afonso Pinhão Ferreira
, et al.
·
Journal of Orthodontics
·
29
Piebaldism and neurofibromatosis type 1: family report
2010
·
Ana Filipa Duarte
, Alberto Mota
, et al.
·
Dermatology Online Journal
·
19
Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation
2009
·
Paulo Morais
, Alberto Mota
, et al.
·
European Journal of Dermatology
·
17
DNA damage response in imatinib resistant chronic myeloid leukemia K562 cells
2012
·
Joana Dinis
, Vânia Silva
, et al.
·
Leukemia & lymphoma/Leukemia and lymphoma
·
16
Vascular Ehlers-Danlos syndrome: A case with fatal outcome
2011
·
Paulo Morais
, Alberto Mota
, et al.
·
Dermatology Online Journal
·
16
Left ventricular non-compaction: a new mutation predisposing to reverse remodeling?
2009
·
Nuno Cortez-Dias
, Manuel Gato Varela
, et al.
·
PubMed
·
14
DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine
2017
·
Mariana Santos
, Simão Cruz
, et al.
·
Neuromuscular Disorders
·
13
The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review
2019
·
Fátima Lopes
, Fátima Torres
, et al.
·
Frontiers in Genetics
·
12
PDF
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature
2013
·
Cláudia Melo
, Susana Gama-de-Sousa
, et al.
·
Gene
·
12
Epileptic Encephalopathy in Adams–Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype
2018
·
Livia Pisciotta
, Valeria Capra
, et al.
·
Neuropediatrics
·
9
BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report
2017
·
Ana P Azevedo
, Alice Reichert
, et al.
·
Clinical Medicine Insights Oncology
·
9
PDF
Piebaldism and neurofibromatosis: State of knowledge
2013
·
Ana Duarte
, Alberto Mota
, et al.
·
Dermatology Online Journal
·
7
Genomic imbalances defining novel intellectual disability associated loci
2019
·
Fátima Lopes
, Fátima Torres
, et al.
·
Orphanet Journal of Rare Diseases
·
6
PDF
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene
2012
·
Ana Novo
, Isabel Couto Guerra
, et al.
·
BMJ Case Reports
·
6
PDF
Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.
2012
·
Marta Rebelo
, Leonor Ramos
, et al.
·
Acta Médica Portuguesa
·
6
PDF
The contribution of 7q33 copy number variations for intellectual disability
2017
·
Fátima Lopes
, Fátima Torres
, et al.
·
Neurogenetics
·
5
Different manifestations of Class II Division 2 incisor retroclination: A morphologic study
2013
·
Pedro Mariano Pereira
, Afonso Pinhão Ferreira
, et al.
·
American Journal of Orthodontics and Dentofacial Orthopedics
·
5
PDF
Single-Test Parallel Assessment of Multiple Genetic Disorders
2011
·
Purificação Tavares
, Luís Dias
, et al.
·
Personalized Medicine
·
5
Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene
2011
·
Paulo Morais
, Alberto Mota
, et al.
·
European Journal of Dermatology
·
4
Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene
2011
·
Joana Maria BOTELHO GOMES
, Ana Paula VIEIRA
, et al.
·
European Journal of Dermatology
·
4
Associação da má oclusão de Classe II Divisão 2 com anomalias do desenvolvimento dentário
2012
·
Pedro Mariano Pereira
, Afonso Pinhão Ferreira
, et al.
·
Revista Portuguesa de Estomatologia Medicina Dentária e Cirurgia Maxilofacial
·
2
PDF
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Works count:
36
Citation count:
599
H-index:
12
I10-index:
13
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