Documents (226) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	1348213	Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9	1.13 KB	2015-11-18	13	36	-
PubMed	8681379	Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Th	971 Bytes	2015-12-05	13	36	-
PubMed	18177466	Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. Bran	1.47 KB	2015-11-23	11	72	-
PubMed	10482951	A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to spe	1.01 KB	2015-11-15	11	40	-
PubMed	11078565	Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methyl	1.36 KB	2015-11-17	11	44	-
PubMed	6846397	The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. We report a	685 Bytes	2015-11-28	11	28	-
PubMed	16957682	A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like pheno	1.58 KB	2015-11-20	11	36	-
PubMed	12011146	Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.	1.97 KB	2015-11-17	11	40	-
PubMed	14699618	Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11	1.61 KB	2015-11-18	11	52	-
PubMed	17431915	Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities	1.18 KB	2017-09-11	11	36	-