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DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine

Neuromuscular disorders : NMD, 2018-03, Vol.28 (3), p.278-282

2018

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The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

Frontiers in genetics, 2019-02, Vol.10, p.58-58

2019

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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

Human mutation, 2007-11, Vol.28 (11), p.1114-1123

2007

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Development of imatinib and dasatinib resistance: dynamics of expression of drug transporters ABCB1, ABCC1, ABCG2, MVP, and SLC22A1

Leukemia & lymphoma, 2011-10, Vol.52 (10), p.1980-1990

2011

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Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature

Gene, 2013-10, Vol.529 (1), p.186-189

2013

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Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib

Oncology reports, 2013-02, Vol.29 (2), p.741-750

2013

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Developmental absence of maxillary lateral incisors in the Portuguese population

European journal of orthodontics, 2005-10, Vol.27 (5), p.443-449

2005

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Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies

Journal of orthodontics, 2013-12, Vol.40 (4), p.299-306

2013

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The contribution of 7q33 copy number variations for intellectual disability

Neurogenetics, 2018, Vol.19 (1), p.27-40

2018

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Different manifestations of Class II Division 2 incisor retroclination: A morphologic study

American journal of orthodontics and dentofacial orthopedics, 2013-03, Vol.143 (3), p.310-316

2013

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DNA damage response in imatinib resistant chronic myeloid leukemia K562 cells

Leukemia & lymphoma, 2012-10, Vol.53 (10), p.2004-2014

2012

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Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation

EJD. European journal of dermatology, 2009-07, Vol.19 (4), p.333-336

2009

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Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene

EJD. European journal of dermatology, 2011-07, Vol.21 (4), p.479-483

2011

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Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene

EJD. European journal of dermatology, 2011-05, Vol.21 (3), p.412-413

2011

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Genomic imbalances defining novel intellectual disability associated loci

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.164-164, Article 164

2019

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BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report

Clinical Medicine Insights. Oncology, 2017, Vol.11, p.1179554917702870

2017

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Genetic susceptibility to maxillary sinus pathology development in the presence of an odontogenic cyst

Revista portuguesa de estomatologia, medicina dentária e cirurgia maxilofacial, 2014-04, Vol.55 (2), p.110-114

2014

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Single-test parallel assessment of multiple genetic disorders

Personalized medicine, 2011-05, Vol.8 (3), p.375-379

2011

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Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?

The Egyptian journal of medical human genetics, 2015-04, Vol.16 (2), p.195-197

2015

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An e6a2 BCR-ABL fusion transcript in a CML patient having an iliac chloroma at initial presentation

Leukemia & lymphoma, 2007-01, Vol.48 (5), p.1034-1037

2007

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Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene

BMJ case reports, 2012-06, Vol.2012, p.bcr1220115380

2012

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Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene

Acta médica portuguesa, 2012-06, Vol.24 (6), p.1079-86

2012

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Measurements in First-Trimester Abortion Products: A Pathologic Study

Archives of pathology & laboratory medicine (1976), 2020-02, Vol.144 (2), p.207-214

2020

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V280G Mutation, Potential Role in Imatinib Resistance: First Case Report

Clinical Medicine Insights. Oncology, 2017-04, Vol.2017 (11)

2017

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Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis

Life sciences (1973), 2004-12, Vol.76 (4), p.379-384

2004

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DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

Development of imatinib and dasatinib resistance: dynamics of expression of drug transporters ABCB1, ABCC1, ABCG2, MVP, and SLC22A1

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: A case report and review of the literature

Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib

Developmental absence of maxillary lateral incisors in the Portuguese population

Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies

The contribution of 7q33 copy number variations for intellectual disability

Different manifestations of Class II Division 2 incisor retroclination: A morphologic study

DNA damage response in imatinib resistant chronic myeloid leukemia K562 cells

Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene

Sjögren-Larsson syndrome due to a novel mutation in the FALDH gene

Genomic imbalances defining novel intellectual disability associated loci

BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report

Genetic susceptibility to maxillary sinus pathology development in the presence of an odontogenic cyst

Single-test parallel assessment of multiple genetic disorders

Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?

An e6a2 BCR-ABL fusion transcript in a CML patient having an iliac chloroma at initial presentation

Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene

Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene

Measurements in First-Trimester Abortion Products: A Pathologic Study

V280G Mutation, Potential Role in Imatinib Resistance: First Case Report

Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis

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