Thư Viện trường Đại Học Nha Trang

Molecular genetics and genomics, Tập 2, Số 2, 2014

Mục lục:

Dòng	Nội dung
1	Newborn screening: the genomic challenge / Harvey L. Levy
2	Genetics and genomic medicine in Israel / Jo€el Zlotogora
3	SHOX gene and conserved noncoding element deletions/ duplications in Colombian patients with idiopathic short stature / Gloria Tatiana Vinasco Sandoval and others
4	Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia / Anas M. Alazami and others
5	The pathogenicity scoring system for mitochondrial tRNA mutations revisited / Emiliano Gonzalez-Vioque and others
6	Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion / Yu-Wei Cheng and others
7	Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family / Marıa Gonzalez-del Pozo and others
8	Nemaline myopathy caused by TNNT1 mutations in a Dutch pedigree / W. Ludo van der Pol and others
9	Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations / Tian Yang and others
10	Association study in three different populations between the GPR88 gene and major psychoses / Maria Del Zompo and others
11	High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis / Ahlem Amouri and others
12	Chromosomal microarray analysis as a ﬁrst-tier clinical diagnostic test: Estonian experience / Olga Zilina and others
13	High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors / Stefanie Spiegler and others
14	A massive parallel sequencing workﬂow for diagnostic genetic testing of mismatch repair genes / Maren F. Hansen and others
15	Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM9
16	Identiﬁcation of novel point mutations in splicing sites integrating whole-exome and RNA-seq data in myeloproliferative diseases / Roberta Spinelli and others