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Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia
British Library Online Contents | 2014| -
The Peregrinatio Academica in the Later Middle Ages: a Scandinavian Database
British Library Conference Proceedings | 1996| -
The intermediate alleles of the fragile X CGG repeat in patients with mental retardation
British Library Online Contents | 1998| -
Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization
British Library Online Contents | 2001| -
Stratégies de détection des polymorphismes de l'ADN dans les populations humaines
National licenceElsevier | 1984| -
Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue
British Library Online Contents | 2011| -
New Syndrome?: Microcephaly, Cutis Verticis Gyrata of the Scalp, Retinitis Pigmentosa, Cataracts, Sensorineural Deafness, and Mental Retardation in Two Brothers
British Library Online Contents | 2001| -
Mild phenotype and spontaneous improvement in a new form of perinatal hypophosphatasia with a novel recessive mutation in the TNSAP gene
British Library Online Contents | 2009| -
Interpretation des fixations ORL suspectes decouvertes sur les TEP/TDM realisees dans le cadre des cancers bronchopulmonaires
British Library Online Contents | 2013| -
Interet de l'abord endonasal endoscopique pour l'exerese des tumeurs de l'apex orbitaire. Exemple d'un schwannome de l'apex orbitaire
British Library Conference Proceedings | 2012| -
Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia
British Library Online Contents | 2013| -
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
British Library Online Contents | 1998| -
Hypophosphatasia: The Mutations in the Tissue-Nonspecific Alkaline Phosphatase Gene
British Library Online Contents | 2000| -
Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the C.1402G>A Mutation of TNSALP Gene
British Library Online Contents | 2009| -
Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment
British Library Online Contents | 2011|
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