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Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Authors :Yao T , Udwan K , John R , Rana A , Haghighi A , Xu L , Hack S , Reich HN , Hladunewich MA , Cattran DC , Paterson AD , Pei Y , Barua M
Published On :2019 Feb 7
Journal Article


Revising the Psychiatric Phenotype of Homocystinuria.

Authors :Almuqbil MA , Waisbren SE , Levy HL , Picker JD
Published On :2019 Aug
Journal Article


Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene.

Authors :Li R , Baskfield A , Lin Y , Beers J , Zou J , Liu C , Jaffré F , Roberts AE , Ottinger EA , Kontaridis MI , Zheng W
Published On :2019 Jan
Journal Article


Natural killer T cells and ulcerative colitis.

Authors :Lai LJ , Shen J , Ran ZH
Published On :2019 Jan
Journal Article Review


CYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia.

Authors :Sun Y , Shen J , Hu X , Qiao Y , Yang J , Shen Y , Li G
Published On :2019 Feb
Journal Article


A robust and homogeneous porous poly(3,4-ethylenedioxythiophene)/graphene thin film for high-efficiency laser desorption/ionization analysis of estrogens in biological samples.

Authors :Huang S , Ye N , Chen G , Ou R , Huang Y , Zhu F , Shen J , Ouyang G
Published On :2019 Apr 1
Journal Article


Crystal structure of the Redβ C-terminal domain in complex with λ Exonuclease reveals an unexpected homology with λ Orf and an interaction with Escherichia coli single stranded DNA binding protein.

Authors :Caldwell BJ , Zakharova E , Filsinger GT , Wannier TM , Hempfling JP , Chun-Der L , Pei D , Church GM , Bell CE
Published On :2019 Feb 28
Journal Article


Predictive value of pretreatment MRI texture analysis in patients with primary nasopharyngeal carcinoma.

Authors :Mao J , Fang J , Duan X , Yang Z , Cao M , Zhang F , Lu L , Zhang X , Wu X , Ding Y , Shen J
Published On :2019 Aug
Journal Article


Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Authors :Ah Mew N , Cnaan A , McCarter R , Choi H , Glass P , Rice K , Scavo L , Gillespie CW , Diaz GA , Berry GT , Wong D , Konczal L , McCandless SE , Coughlin Ii CR , Weisfeld-Adams JD , Ficicioglu C , Yudkoff M , Enns GM , Lichter-Konecki U , Gallagher R , Tuchman M
Published On :2018 Dec 20
Journal Article


Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Authors :Whiffin N , Roberts AM , Minikel E , Zappala Z , Walsh R , O'Donnell-Luria AH , Karczewski KJ , Harrison SM , Thomson KL , Sage H , Ing AY , Barton PJR , Funke B , Cook SA , MacArthur DG , Ware JS
Published On :2019 Jan 3
Letter Comment


A suppurative thyroiditis and perineal subcutaneous abscess related with aspergillus fumigatus: a case report and literature review.

Authors :Tan J , Shen J , Fang Y , Zhu L , Liu Y , Gong Y , Zhu H , Hu Z , Wu G
Published On :2018 Dec 27
Journal Article Review


Loss of response to scheduled infliximab therapy for Crohn's disease in adults: A systematic review and meta-analysis.

Authors :Zhang QW , Shen J , Zheng Q , Ran ZH
Published On :2019 Feb
Journal Article Meta-Analysis


CRISPR-C: circularization of genes and chromosome by CRISPR in human cells.

Authors :Møller HD , Lin L , Xiang X , Petersen TS , Huang J , Yang L , Kjeldsen E , Jensen UB , Zhang X , Liu X , Xu X , Wang J , Yang H , Church GM , Bolund L , Regenberg B , Luo Y
Published On :2018 Dec 14
Journal Article


Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Authors :Gartner V , Markello TC , Macnamara E , De Biase A , Thurm A , Joseph L , Beggs A , Schmahmann JD , Berry GT , Anselm I , Boslet E , Tifft CJ , Gahl WA , Lee PR
Published On :2018 Dec
Journal Article


Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Authors :Longo N , Dimmock D , Levy H , Viau K , Bausell H , Bilder DA , Burton B , Gross C , Northrup H , Rohr F , Sacharow S , Sanchez-Valle A , Stuy M , Thomas J , Vockley J , Zori R , Harding CO
Published On :2019 Aug
Journal Article