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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Authors :Kurki MI , Saarentaus E , Pietiläinen O , Gormley P , Lal D , Kerminen S , Torniainen-Holm M , Hämäläinen E , Rahikkala E , Keski-Filppula R , Rauhala M , Korpi-Heikkilä S , Komulainen-Ebrahim J , Helander H , Vieira P , Männikkö M , Peltonen M , Havulinna AS , Salomaa V , Pirinen M , Suvisaari J , Moilanen JS , Körkkö J , Kuismin O , Daly MJ , Palotie A
Published On :2019 Jan 24
Journal Article Research Support, Non-U.S. Gov't


Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Authors :Nadol JB Jr , Hedley-Whyte ET , Amr SS , O Apos Malley JT , Kamakura T
Published On :2018
Case Reports Journal Article Research Support, N.I.H., Extramural


Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Authors :Zollino M , Zweier C , Van Balkom ID , Sweetser DA , Alaimo J , Bijlsma EK , Cody J , Elsea SH , Giurgea I , Macchiaiolo M , Smigiel R , Thibert RL , Benoist I , Clayton-Smith J , De Winter CF , Deckers S , Gandhi A , Huisman S , Kempink D , Kruisinga F , Lamacchia V , Marangi G , Menke L , Mulder P , Nordgren A , Renieri A , Routledge S , Saunders CJ , Stembalska A , Van Balkom H , Whalen S , Hennekam RC
Published On :2019 Apr
Consensus Statement Journal Article Research Support, Non-U.S. Gov't Review


Developmental Biology: Hox Timing Determines Limb Placement.

Authors :Young JJ , Grayson P , Tabin CJ
Published On :2019 Jan 21
Journal Article Comment


LncRNA TapSAKI promotes inflammation injury in HK-2 cells and urine derived sepsis-induced kidney injury.

Authors :Shen J , Liu L , Zhang F , Gu J , Pan G
Published On :2019 May
Journal Article


Comparison of the efficiency of different enemas on patients with distal ulcerative colitis.

Authors :Zhang Y , Chen D , Wang F , Li X , Xue X , Jiang M , Xu B , Chu Y , Wang W , Wu K , Mao R , Shen J , Yang S , Liang J
Published On :2019 Mar
Comparative Study Journal Article


Naringenin has a chemoprotective effect in MDA-MB-231 breast cancer cells via inhibition of caspase-3 and -9 activities.

Authors :Wang R , Wang J , Dong T , Shen J , Gao X , Zhou J
Published On :2019 Jan
Journal Article Retracted Publication


Insights into genetics, human biology and disease gleaned from family based genomic studies.

Authors :Posey JE , O'Donnell-Luria AH , Chong JX , Harel T , Jhangiani SN , Coban Akdemir ZH , Buyske S , Pehlivan D , Carvalho CMB , Baxter S , Sobreira N , Liu P , Wu N , Rosenfeld JA , Kumar S , Avramopoulos D , White JJ , Doheny KF , Witmer PD , Boehm C , Sutton VR , Muzny DM , Boerwinkle E , Günel M , Nickerson DA , Mane S , MacArthur DG , Gibbs RA , Hamosh A , Lifton RP , Matise TC , Rehm HL , Gerstein M , Bamshad MJ , Valle D , Lupski JR , Centers for Mendelian Genomics
Published On :2019 Apr
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review


Molecular control of macroscopic forces drives formation of the vertebrate hindgut.

Authors :Nerurkar NL , Lee C , Mahadevan L , Tabin CJ
Published On :2019 Jan
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


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 Research Support, Non-U.S. Gov't


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 Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't


Natural killer T cells and ulcerative colitis.

Authors :Lai LJ , Shen J , Ran ZH
Published On :2019 Jan
Journal Article Research Support, Non-U.S. Gov't 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
Case Reports 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