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Documents (593) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	6585184	Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. Seventy families wit	1.19 KB	2015-11-28	12	9	2025-01-16
PubMed	122435	Prenatal diagnosis of Wolman disease. Two pregnancies at risk for Wolman disease were monitored by a	1.17 KB	2015-11-22	10	4	2025-01-16
PubMed	7795652	Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. The BRCA1 gene on chromosome 17q21	799 Bytes	2015-11-27	10	9	2025-01-16
PubMed	2180286	Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. One of female MZ t	1.69 KB	2015-11-26	18	11	2025-01-16
PubMed	1316718	Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome. A 24 y	1.53 KB	2015-11-18	19	22	2025-01-16
PubMed	10071185	Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Dihydropyrimidin	1.27 KB	2015-11-02	10	11	2025-01-16
PubMed	102474	Combined genetic deficiency of C6 and C7 in man. By routine screening of sera, a subject was discove	1010 Bytes	2015-11-20	11	3	2025-01-16
PubMed	2651669	Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. We report two de novo	726 Bytes	2015-03-12	17	7	2025-01-16
PubMed	10930361	Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. Frat	2.03 KB	2015-11-15	13	8	2025-01-16
PubMed	10698963	Human mutations in glucose 6-phosphate dehydrogenase reflect evolutionary history. Glucose 6-phospha	1.58 KB	2015-11-21	10	5	2025-01-16