Share

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

Authors :McLaughlin HM , Kelly MA , Hawley PP , Darras BT , Funke B , Picker J
Published On :2013 Jul 2
Journal Article


Hyperreactio luteinalis (enlarged ovaries) during the second and third trimesters of pregnancy: common clinical associations.

Authors :Lynn KN , Steinkeler JA , Wilkins-Haug LE , Benson CB
Published On :2013 Jul
Journal Article


Germline mutations affecting Gα11 in hypoparathyroidism.

Authors :Mannstadt M , Harris M , Bravenboer B , Chitturi S , Dreijerink KM , Lambright DG , Lim ET , Daly MJ , Gabriel S , Jüppner H
Published On :2013 Jun 27
Letter


In vitro integration of ribosomal RNA synthesis, ribosome assembly, and translation.

Authors :Jewett MC , Fritz BR , Timmerman LE , Church GM
Published On :2013 Jun 25
Journal Article


[Application of biomarker CTX- II in osteoarthritis].

Authors :Wang XZ , Gao NY , Liu T , Shen J , Wei SP , Zheng YX , Cao YL , Zhan HS
Published On :2013 Mar
Journal Article


Genome-wide meta-analysis identifies new susceptibility loci for migraine.

Authors :Anttila V , Winsvold BS , Gormley P , Kurth T , Bettella F , McMahon G , Kallela M , Malik R , de Vries B , Terwindt G , Medland SE , Todt U , McArdle WL , Quaye L , Koiranen M , Ikram MA , Lehtimäki T , Stam AH , Ligthart L , Wedenoja J , Dunham I , Neale BM , Palta P , Hamalainen E , Schürks M , Rose LM , Buring JE , Ridker PM , Steinberg S , Stefansson H , Jakobsson F , Lawlor DA , Evans DM , Ring SM , Färkkilä M , Artto V , Kaunisto MA , Freilinger T , Schoenen J , Frants RR , Pelzer N , Weller CM , Zielman R , Heath AC , Madden PAF , Montgomery GW , Martin NG , Borck G , Göbel H , Heinze A , Heinze-Kuhn K , Williams FMK , Hartikainen AL , Pouta A , van den Ende J , Uitterlinden AG , Hofman A , Amin N , Hottenga JJ , Vink JM , Heikkilä K , Alexander M , Muller-Myhsok B , Schreiber S , Meitinger T , Wichmann HE , Aromaa A , Eriksson JG , Traynor B , Trabzuni D , North American Brain Expression Consortium , UK Brain Expression Consortium , Rossin E , Lage K , Jacobs SBR , Gibbs JR , Birney E , Kaprio J , Penninx BW , Boomsma DI , van Duijn C , Raitakari O , Jarvelin MR , Zwart JA , Cherkas L , Strachan DP , Kubisch C , Ferrari MD , van den Maagdenberg AMJM , Dichgans M , Wessman M , Smith GD , Stefansson K , Daly MJ , Nyholt DR , Chasman D , Palotie A
Published On :2013 Aug
Journal Article Meta-Analysis


Mutational heterogeneity in cancer and the search for new cancer-associated genes.

Authors :Lawrence MS , Stojanov P , Polak P , Kryukov GV , Cibulskis K , Sivachenko A , Carter SL , Stewart C , Mermel CH , Roberts SA , Kiezun A , Hammerman PS , McKenna A , Drier Y , Zou L , Ramos AH , Pugh TJ , Stransky N , Helman E , Kim J , Sougnez C , Ambrogio L , Nickerson E , Shefler E , Cortés ML , Auclair D , Saksena G , Voet D , Noble M , DiCara D , Lin P , Lichtenstein L , Heiman DI , Fennell T , Imielinski M , Hernandez B , Hodis E , Baca S , Dulak AM , Lohr J , Landau DA , Wu CJ , Melendez-Zajgla J , Hidalgo-Miranda A , Koren A , McCarroll SA , Mora J , Crompton B , Onofrio R , Parkin M , Winckler W , Ardlie K , Gabriel SB , Roberts CWM , Biegel JA , Stegmaier K , Bass AJ , Garraway LA , Meyerson M , Golub TR , Gordenin DA , Sunyaev S , Lander ES , Getz G
Published On :2013 Jul 11
Journal Article


Next-generation carrier screening.

Authors :Umbarger MA , Kennedy CJ , Saunders P , Breton B , Chennagiri N , Emhoff J , Greger V , Hallam S , Maganzini D , Micale C , Nizzari MM , Towne CF , Church GM , Porreca GJ
Published On :2014 Feb
Journal Article


Prospects for new antibiotics: a molecule-centered perspective.

Authors :Walsh CT , Wencewicz TA
Published On :2014 Jan
Journal Article Review


Sequencing studies in human genetics: design and interpretation.

Authors :Goldstein DB , Allen A , Keebler J , Margulies EH , Petrou S , Petrovski S , Sunyaev S
Published On :2013 Jul
Journal Article Review


Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.

Authors :Chaste P , Klei L , Sanders SJ , Murtha MT , Hus V , Lowe JK , Willsey AJ , Moreno-De-Luca D , Yu TW , Fombonne E , Geschwind D , Grice DE , Ledbetter DH , Lord C , Mane SM , Lese Martin C , Martin DM , Morrow EM , Walsh CA , Sutcliffe JS , State MW , Devlin B , Cook EH Jr , Kim SJ
Published On :2013 Oct 15
Journal Article


Developmental biology. Deserts and waves in gene expression.

Authors :Rodrigues AR , Tabin CJ
Published On :2013 Jun 7
Journal Article Comment


Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.

Authors :Schafer CM , Campbell NG , Cai G , Yu F , Makarov V , Yoon S , Daly MJ , Gibbs RA , Schellenberg GD , Devlin B , Sutcliffe JS , Buxbaum JD , Roeder K
Published On :2013 Oct
Journal Article


Nanosized metal oxide and nanobelts prepared by selective dealloying of Ti-based amorphous powders.

Authors :Wang DJ , Li ZH , Rahman MA , Shen J
Published On :2013 Jun 25
Journal Article