Documents (345,060) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
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	17	1	-
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	18	7	-
PubMed	9382108	Risk reversals in predictive testing for Huntington disease. The first predictive testing for Huntin	1 KB	2015-03-12	29	0	-
PubMed	2651669	Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome. We report two de novo	726 Bytes	2015-03-12	16	1	-
PubMed	1517503	Fatal pyoderma gangrenosum in association with C7 deficiency. Although pyoderma gangrenosum (PG) is	658 Bytes	2015-11-22	15	0	-
PubMed	9066888	Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Kniest dysplasia is a severe cho	844 Bytes	2015-12-08	31	0	-
PubMed	9472666	Molecular defects leading to human complement component C6 deficiency in an African-American family.	1.01 KB	2015-03-12	30	0	-
PubMed	1671851	Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis. W	953 Bytes	2017-09-11	18	0	-
PubMed	8209890	Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome. A survey i	871 Bytes	2015-03-12	14	0	-
PubMed	9083764	Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. UNLABELLED: The Schwartz-Jampel syndrom	1.84 KB	2015-12-08	31	0	-