Related content

A novel mutation in the GLUT2 gene in a patient with Fanconi–Bickel syndrome detected by neonatal screening for galactosaemia

By Peduto A.   Spada M.   Alluto A.   Dolcetta M. La   Ponzone A.   Santer R.  

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 2, 2004-01 ,pp. : 279-280

Springer Publishing Company

Access to resources Recommend Favorite

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

By Revencu Nicole   Quenum Geneviève   Detaille Thierry   Verellen Gaston   Paepe Anne   Verellen-Dumoulin Christine  

European Journal of Pediatrics, Vol. 163, Iss. 1, 2004-01 ,pp. : 33-37

Springer Publishing Company

Access to resources Recommend Favorite

Dentition Abnormalities in a Timothy Syndrome Patient With a Novel Genetic Mutation: A Case Report

By Papineau Scott D.   Wilson Stephen  

Pediatric Dentistry, Vol. 36, Iss. 3, 2014-06 ,pp. : 245-249

American Academy of Pediatric Dentistry

Access to resources Recommend Favorite

Neonatal Diabetes: Applying Molecular Biology to Patient Care

By  

Current Pediatric Reviews, Vol. 4, Iss. 2, 2008-05 ,pp. : 80-83

Bentham Science Publishers

Access to resources Recommend Favorite

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

By Fiorini Claudia   Jilani Sawssen   Losi Claretta   Silini Antonietta   Giliani Silvia   Ferrari Simona   Notarangelo Luigi   Plebani Alessandro   Sfar Taher   Helal Ahmed  

European Journal of Pediatrics, Vol. 163, Iss. 12, 2004-12 ,pp. : 704-708

Springer Publishing Company

Access to resources Recommend Favorite