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Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

Authors :Haghighi A , Rezazadeh J , Shadmehri AA , Haghighi A , Kornreich R , Desnick RJ
Published On :2011 Sep
Case Reports Journal Article


Identification of the thiazolyl peptide GE37468 gene cluster from Streptomyces ATCC 55365 and heterologous expression in Streptomyces lividans.

Authors :Young TS , Walsh CT
Published On :2011 Aug 9
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Ultrafast coloring-bleaching performance of nanoporous WO3-SiO2 gasochromic films doped with Pd catalyst.

Authors :Li D , Wu G , Gao G , Shen J , Huang F
Published On :2011 Dec
Journal Article Research Support, Non-U.S. Gov't


The adult galactosemic phenotype.

Authors :Waisbren SE , Potter NL , Gordon CM , Green RC , Greenstein P , Gubbels CS , Rubio-Gozalbo E , Schomer D , Welt C , Anastasoaie V , D'Anna K , Gentile J , Guo CY , Hecht L , Jackson R , Jansma BM , Li Y , Lip V , Miller DT , Murray M , Power L , Quinn N , Rohr F , Shen Y , Skinder-Meredith A , Timmers I , Tunick R , Wessel A , Wu BL , Levy H , Elsas L , Berry GT
Published On :2012 Mar
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.

Authors :Shea J , Agarwala V , Philippakis AA , Maguire J , Banks E , Depristo M , Thomson B , Guiducci C , Onofrio RC , Kathiresan S , Gabriel S , Burtt NP , Daly MJ , Groop L , Altshuler D , Myocardial Infarction Genetics Consortium
Published On :2011 Jul 24
Comparative Study Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Windowed stochastic proton decoupling for in vivo (13)C magnetic resonance spectroscopy with reduced RF power deposition.

Authors :Xiang Y , Shen J
Published On :2011 Oct
Comparative Study Journal Article Research Support, N.I.H., Intramural


Precise manipulation of chromosomes in vivo enables genome-wide codon replacement.

Authors :Isaacs FJ , Carr PA , Wang HH , Lajoie MJ , Sterling B , Kraal L , Tolonen AC , Gianoulis TA , Goodman DB , Reppas NB , Emig CJ , Bang D , Hwang SJ , Jewett MC , Jacobson JM , Church GM
Published On :2011 Jul 15
Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.


Barcoding bias in high-throughput multiplex sequencing of miRNA.

Authors :Alon S , Vigneault F , Eminaga S , Christodoulou DC , Seidman JG , Church GM , Eisenberg E
Published On :2011 Sep
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.


tRNA-dependent peptide bond formation by the transferase PacB in biosynthesis of the pacidamycin group of pentapeptidyl nucleoside antibiotics.

Authors :Zhang W , Ntai I , Kelleher NL , Walsh CT
Published On :2011 Jul 26
Journal Article Research Support, N.I.H., Extramural


In vivo MRI monitoring nerve regeneration of acute peripheral nerve traction injury following mesenchymal stem cell transplantation.

Authors :Duan XH , Cheng LN , Zhang F , Liu J , Guo RM , Zhong XM , Wen XH , Shen J
Published On :2012 Sep
Journal Article Research Support, Non-U.S. Gov't


Chromosomal microarray testing influences medical management.

Authors :Coulter ME , Miller DT , Harris DJ , Hawley P , Picker J , Roberts AE , Sobeih MM , Irons M
Published On :2011 Sep
Journal Article


Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Authors :Saadi I , Alkuraya FS , Gisselbrecht SS , Goessling W , Cavallesco R , Turbe-Doan A , Petrin AL , Harris J , Siddiqui U , Grix AW Jr , Hove HD , Leboulch P , Glover TW , Morton CC , Richieri-Costa A , Murray JC , Erickson RP , Maas RL
Published On :2011 Jul 15
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Therapeutic effect of carboxymethylated and quanternized chitosan on insulin resistance in high-fat-diet-induced rats and 3T3-L1 adipocytes.

Authors :Liu X , Yang F , Song T , Zeng A , Wang Q , Sun Z , Shen J
Published On :2012
Journal Article Research Support, Non-U.S. Gov't


Variation in genome-wide mutation rates within and between human families.

Authors :Conrad DF , Keebler JE , DePristo MA , Lindsay SJ , Zhang Y , Casals F , Idaghdour Y , Hartl CL , Torroja C , Garimella KV , Zilversmit M , Cartwright R , Rouleau GA , Daly M , Stone EA , Hurles ME , Awadalla P , 1000 Genomes Project
Published On :2011 Jun 12
Journal Article Research Support, Non-U.S. Gov't


Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Authors :Yu Y , Bhangale TR , Fagerness J , Ripke S , Thorleifsson G , Tan PL , Souied EH , Richardson AJ , Merriam JE , Buitendijk GH , Reynolds R , Raychaudhuri S , Chin KA , Sobrin L , Evangelou E , Lee PH , Lee AY , Leveziel N , Zack DJ , Campochiaro B , Campochiaro P , Smith RT , Barile GR , Guymer RH , Hogg R , Chakravarthy U , Robman LD , Gustafsson O , Sigurdsson H , Ortmann W , Behrens TW , Stefansson K , Uitterlinden AG , van Duijn CM , Vingerling JR , Klaver CC , Allikmets R , Brantley MA Jr , Baird PN , Katsanis N , Thorsteinsdottir U , Ioannidis JP , Daly MJ , Graham RR , Seddon JM
Published On :2011 Sep 15
Journal Article Meta-Analysis Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't