Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21–p24

By Nielsen Jørgen E.   Koefoed Pernille   Abell Kathrine   Hasholt Lis   Eiberg Hans   Fenger Kirsten   Niebuhr Erik   Sørensen Sven Asger  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1811-1816

Oxford University Press

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Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 421-425

John Wiley & Sons Inc

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Evidence for a novel gene for familial febrile convulsions, FEB2 , linked to chromosome 19p in an extended family from the Midwest

By Schneider D.T.  

Human Molecular Genetics, Vol. 7, Iss. 1, 1998-01 ,pp. : 63-68

Oxford University Press

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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

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American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2479-2483

John Wiley & Sons Inc

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Identification of Three Different Truncating Mutations in Cytochrome P4501B1 ( CYP1B1 ) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

By Stoilov Ivaylo   Akarsu A. Nurten   Sarfarazi Mansoor  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 641-647

Oxford University Press

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