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A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 yearsMÜLLER, Annegret; SCHACKERT, Hans K; STEMMLER, Susanne et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 3, pp 195-199, issn 1552-4825, 5 p.Article

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Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase geneSAWAI, Hideaki; KANAZAWA, Nozomi; TSUKAHARA, Yuki et al.Prenatal diagnosis. 2003, Vol 23, Num 9, pp 743-746, issn 0197-3851, 4 p.Article

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish familyXIN, B; PUFIENBERGER, E; NYE, L et al.Clinical genetics. 2008, Vol 74, Num 3, pp 274-278, issn 0009-9163, 5 p.Article

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratodermaMENDEZ, M; POBLETE - GUTIERREZ, P; MORAN-JIMENEZ, M.-J et al.British journal of dermatology (1951). 2009, Vol 160, Num 6, pp 1330-1334, issn 0007-0963, 5 p.Article

Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in TaiwanWANG, Hsu-Hui; LEE, Hsien-Hsiung; WU, Du-An et al.Acta paediatrica taiwanica. 2003, Vol 44, Num 6, pp 339-342, issn 1608-8115, 4 p.Article

Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasiaHONG JIANG; BEISHA TANG; ZHIGAO LONG et al.Journal of the neurological sciences. 2006, Vol 241, Num 1-2, pp 1-6, issn 0022-510X, 6 p.Article

Factor X M402T: a homozygous missense mutation identified as the cause of cross-reacting material-reduced deficiencyCHIKASAWA, Yushi; SHINOZAWA, Keiko; AMANO, Kagehiro et al.International journal of hematology. 2014, Vol 100, Num 4, pp 345-352, issn 0925-5710, 8 p.Article

Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase geneYAMASHITA, Satoshi; MAEDA, Yasushi; OHMORI, Hiroyuki et al.Journal of the neurological sciences. 2004, Vol 225, Num 1-2, pp 129-133, issn 0022-510X, 5 p.Article

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1KRÜGER, Stefan; KINZEL, Miriam; KÖLBLE, Konrad et al.European journal of human genetics. 2008, Vol 16, Num 1, pp 62-72, issn 1018-4813, 11 p.Article