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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Authors :Haskovic M , Derks B , van der Ploeg L , Trommelen J , Nyakayiru J , van Loon LJC , Mackinnon S , Yue WW , Peake RWA , Zha L , Demirbas D , Qi W , Huang X , Berry GT , Achten J , Bierau J , Rubio-Gozalbo ME , Coelho AI
Published On :2018 Nov 26
Journal Article


Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Authors :Rodan LH , Anyane-Yeboa K , Chong K , Klein Wassink-Ruiter JS , Wilson A , Smith L , Kothare SV , Rajabi F , Blaser S , Ni M , DeBerardinis RJ , Poduri A , Berry GT
Published On :2018 Dec
Journal Article


Effects of carrier frequency mismatch on frequency-selective spectral editing.

Authors :An L , Araneta MF , Johnson C , Shen J
Published On :2019 Apr
Journal Article


Sarcopenia of the Psoas Muscles Is Associated With Poor Outcomes Following Lung Transplantation.

Authors :Hsu J , Krishnan A , Lin CT , Shah PD , Broderick SR , Higgins RSD , Merlo CA , Bush EL
Published On :2019 Apr
Journal Article


Fast And Simple Automatic 3D Ultrasound Probe Calibration Based On 3D Printed Phantom And An Untracked Marker.

Authors :Shen J , Zemiti N , Dillenseger JL , Poignet P
Published On :2018 Jul
Journal Article


A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.

Authors :Song C , Li N , Hu X , Shi Y , Chen L , Zhou T , Xu X , Shen J , Zhu M
Published On :2019 Nov
Journal Article


Free radial forearm flap and anterolateral thigh flap for reconstruction of hemiglossectomy defects: A comparison of quality of life.

Authors :Zhang PP , Meng L , Shen J , Liu H , Zhang J , Xiang X , Yan YB
Published On :2018 Dec
Journal Article Multicenter Study


PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Authors :Khalil R , Kenny C , Hill RS , Mochida GH , Nasir R , Partlow JN , Barry BJ , Al-Saffar M , Egan C , Stevens CR , Gabriel SB , Barkovich AJ , Ellison JW , Al-Gazali L , Walsh CA , Chahrour MH
Published On :2018 Dec
Journal Article


Associations of urinary polycyclic aromatic hydrocarbons with age at natural menopause in U.S. women aged 35-65, NHANES 2003-2012.

Authors :Huang Y , Guo J , Lv N , Li S , Wu Y , Bai R , Shen J , Chen G , Zhang D
Published On :2018 Dec
Journal Article


Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.

Authors :Wang H , Cade BE , Sofer T , Sands SA , Chen H , Browning SR , Stilp AM , Louie TL , Thornton TA , Johnson WC , Below JE , Conomos MP , Evans DS , Gharib SA , Guo X , Wood AC , Mei H , Yaffe K , Loredo JS , Ramos AR , Barrett-Connor E , Ancoli-Israel S , Zee PC , Arens R , Shah NA , Taylor KD , Tranah GJ , Stone KL , Hanis CL , Wilson JG , Gottlieb DJ , Patel SR , Rice K , Post WS , Rotter JI , Sunyaev SR , Cai J , Lin X , Purcell SM , Laurie CC , Saxena R , Redline S , Zhu X
Published On :2019 Feb 15
Journal Article


Unique pelvic fin in a tetrapod-like fossil fish, and the evolution of limb patterning.

Authors :Jeffery JE , Storrs GW , Holland T , Tabin CJ , Ahlberg PE
Published On :2018 Nov 20
Journal Article


Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing.

Authors :Soares de Lima Y , Chiabai M , Shen J , Córdoba MS , Versiani BR , Benício ROA , Pogue R , Mingroni-Netto RC , Lezirovitz K , Pic-Taylor A , Mazzeu JF , Oliveira SF
Published On :2018 Dec
Journal Article




Carbohydrate-Based Polymer Brushes Prevent Viral Adsorption on Electrostatically Heterogeneous Interfaces.

Authors :Kumar R , Kratzer D , Cheng K , Prisby J , Sugai J , Giannobile WV , Lahann J
Published On :2019 Jan
Journal Article