Documents (787) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8528200	Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved hap	2 KB	2015-11-27	9	11	-
PubMed	10090880	Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships an	1.64 KB	2015-11-06	12	9	-
PubMed	9585605	Mutation analysis of UBE3A in Angelman syndrome patients. Angelman syndrome (AS) is caused by chromo	1.17 KB	2015-11-27	25	9	-
PubMed	1303173	Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. The high prevalence	1.57 KB	2015-11-18	11	4	-
PubMed	9439660	Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal r	1.3 KB	2015-11-27	25	13	-
PubMed	10480348	Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dy	1.77 KB	2015-11-15	10	11	-
PubMed	8755918	Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 familie	1.31 KB	2015-11-27	49	8	-
PubMed	10878391	Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wisk	1.27 KB	2015-11-15	10	11	-
PubMed	100562	Familial deficiency of the seventh component of complement associated with recurrent bacteremic infe	1.43 KB	2015-11-02	16	12	-
PubMed	3718019	Heterozygous C2 deficiency associated with angioedema, myasthenia gravis, and systemic lupus erythem	634 Bytes	2015-03-12	15	11	-