Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9603435	W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A	1.9 KB	2015-11-27	34	6	-
PubMed	9618166	Two frequent missense mutations in Pendred syndrome. Pendred syndrome is an autosomal recessive diso	1.18 KB	2015-11-28	24	6	-
PubMed	9618170	Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardio	1.13 KB	2015-11-27	25	8	-
PubMed	9620771	Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations	1.6 KB	2015-11-27	25	9	-
PubMed	9634518	A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutation	1.63 KB	2015-11-27	25	8	-
PubMed	9668171	Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age de	1.55 KB	2015-11-27	25	6	-
PubMed	9671401	A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of	1.09 KB	2015-11-27	25	2	-
PubMed	9674903	Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of famili	1.79 KB	2015-11-27	32	9	-
PubMed	9674906	Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping". Recent studies d	1.41 KB	2015-03-12	30	13	-
PubMed	9689113	A mouse model of severe von Willebrand disease: defects in hemostasis and thrombosis. von Willebrand	1.18 KB	2015-03-12	23	6	-