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Anna Latos-Bieleńska Selected Research

fryns hofkens fabry syndrome

1/2013Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

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Anna Latos-Bieleńska Research Topics

Disease

2Intellectual Disability (Idiocy)
03/2016 - 05/2015
2Syndactyly (Polysyndactyly)
04/2014 - 11/2012
2Aggressive Fibromatosis (Desmoid)
01/2007 - 01/2006
1Desbuquois syndrome
07/2016
1Neurodevelopmental Disorders
03/2016
1Apraxias (Dyspraxia)
03/2016
1Microcephaly
03/2016
1Hyperekplexia
03/2016
1Ectrodactyly
05/2015
1Dental Enamel Hypoplasia
04/2014
1Anodontia (Hypodontia)
04/2014
1Inborn Genetic Diseases (Disease, Hereditary)
04/2014
1Oculodentodigital Dysplasia
04/2014
1Oligospermia (Oligozoospermia)
03/2013
1Azoospermia
03/2013
1fryns hofkens fabry syndrome
01/2013
1Coloboma (Colobomas)
01/2013
1Trisomy (Trisomies)
01/2013
1Craniofacial Abnormalities
11/2012
1Hypertelorism
11/2012
1Greig cephalopolysyndactyly syndrome
11/2012
1Polydactyly (Polydactylism)
11/2012
1Megalencephaly
11/2012
1Type E Brachydactyly
01/2012
1Smith-Lemli-Opitz Syndrome
12/2010
1Primary Hypertrophic Osteoarthropathy (Hypertrophic Osteoarthropathy, Primary)
06/2008
1Neoplasms (Cancer)
01/2007
1Adenomatous Polyposis Coli (Familial Adenomatous Polyposis)
01/2006
1Open-Angle Glaucoma (Glaucoma, Open Angle)
01/2004

Drug/Important Bio-Agent (IBA)

2Nonsense Codon (Nonsense Mutation)IBA
03/2016 - 01/2012
1Growth Hormone (Somatotropin)IBA
07/2016
1CateninsIBA
03/2016
1Proteins (Proteins, Gene)FDA Link
05/2015
1disodium salt olean-11,13(18)-diene-3,30-diol dihemiphthalateIBA
04/2014
1DNA (Deoxyribonucleic Acid)IBA
03/2013
1Retinaldehyde (Retinal)IBA
01/2013
1Tuberculin (PPD)IBA
11/2012
1CholesterolIBA
12/2010
115-hydroxyprostaglandin dehydrogenaseIBA
06/2008
1ParaffinIBA
01/2007
1Formaldehyde (Formol)FDA Link
01/2007
1beta CateninIBA
01/2006
1trabecular meshwork-induced glucocorticoid response proteinIBA
01/2004