Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 5, 2015-05 ,pp. : 1165-1167

John Wiley & Sons Inc

Access to resources Recommend Favorite

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

By  

Molecular Syndromology, Vol. 1, Iss. 6, 2011-07 ,pp. : 294-300

Karger

Access to resources Recommend Favorite

Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1679-1680

John Wiley & Sons Inc

Access to resources Recommend Favorite

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

By Mátyás Gábor   Alonso Sira   Patrignani Andrea   Marti Myriam   Arnold Eliane   Magyar István   Henggeler Caroline   Carrel Thierry   Steinmann Beat   Berger Wolfgang  

Human Genetics, Vol. 122, Iss. 1, 2007-08 ,pp. : 23-32

Springer Publishing Company

Access to resources Recommend Favorite

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

By Wu Yuan‐Qing  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 313-321

Oxford University Press

Access to resources Recommend Favorite