Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
American journal of human genetics | 2018-02-01 | PMID 29394991
Mutoh Hiroki, Kato Mitsuhiro, Akita Tenpei and 15 more
Genes: CNPY3
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American journal of human genetics | 2018-02-01 | PMID 29394991
Mutoh Hiroki, Kato Mitsuhiro, Akita Tenpei and 15 more
Genes: CNPY3
The American journal of cardiology | 2018-03-15 | PMID 29394996
Hamatani Yasuhiro, Nagai Toshiyuki, Shiraishi Yasuyuki and 12 more
Acta tropica | 2018-08-01 | PMID 29395034
Adeyemo Folasade Esther, Singh Gulshan, Reddy Poovendhree and 1 more
Cell stem cell | 2018-02-01 | PMID 29395053
Bowman Robert L, Busque Lambert, Levine Ross L
Molecular cell | 2018-02-01 | PMID 29395063
Chen Liang, Chen Jia-Yu, Huang Yi-Jou and 12 more
Genes: SRSF2, ATR
Molecular cell | 2018-02-01 | PMID 29395064
Grunseich Christopher, Wang Isabel X, Watts Jason A and 15 more
Genes: BAMBI
American journal of human genetics | 2018-02-01 | PMID 29395072
Bozal-Basterra Laura, Martín-Ruíz Itziar, Pirone Lucia and 16 more
Genes: SALL1, SHH, CEP97
American journal of human genetics | 2018-02-01 | PMID 29395073
Drecourt Anthony, Babdor Joël, Dussiot Michael and 14 more
Genes: CRAT, REPS1
American journal of human genetics | 2018-02-01 | PMID 29395074
Uddin Mohammed, Unda Brianna K, Kwan Vickie and 21 more
American journal of human genetics | 2018-02-01 | PMID 29395075
Yin Jiani, Chen Wu, Chao Eugene S and 12 more
Genes: OTUD7A
Fertility and sterility | 2018-02-01 | PMID 29395096
Normand Elizabeth A, Alaimo Joseph T, Van den Veyver Ignatia B
Experimental cell research | 2018-02-15 | PMID 29395134
Yao Hao, Ji Cheng-Cheng, Cheng Yun-Jiu and 4 more
Genes: KCNQ1
Journal of dairy science | 2018-04-01 | PMID 29395135
Lu Y, Vandehaar M J, Spurlock D M and 10 more
Journal of dairy science | 2018-04-01 | PMID 29395136
Dennis N A, Stachowicz K, Visser B and 6 more
The Journal of pediatrics | 2018-05-01 | PMID 29395179
Baertling Fabian, Sánchez-Caballero Laura, van den Brand Mariël A M and 5 more
Genes: NDUFV1
Neurobiology of aging | 2018-06-01 | PMID 29395285
Engelman Corinne D, Darst Burcu F, Bilgel Murat and 4 more
Genes: PLD3, TREM2
Neurobiology of aging | 2018-06-01 | PMID 29395286
Rao Shuquan, Ghani Mahdi, Guo Zhiyun and 8 more
Genes: APOE
Kidney international | 2018-05-01 | PMID 29395339
Nakajima Yoshiro, Kiyonari Hiroshi, Mukumoto Yoshiko and 1 more
Genes: NEK8, NPHP3
Trends in genetics : TIG | 2018-03-01 | PMID 29395378
Yang Melinda A, Fu Qiaomei
Journal of the Formosan Medical Association = Taiwan yi zhi | 2019-01-01 | PMID 29395391
Ching Yung-Hao, Yeh Jih-I, Fan Wen-Lang and 4 more
Genes: CRYBB2
Seminars in diagnostic pathology | 2018-05-01 | PMID 29395463
Agaimy Abbas, Hartmann Arndt
Genes: FAP
American journal of kidney diseases : the official journal of the National Kidney Foundation | 2018-08-01 | PMID 29395486
Cornec-Le Gall Emilie, Chebib Fouad T, Madsen Charles D and 8 more
Genes: PKD2, GANAB, PKD1
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis | 2000-01-01 | PMID 29395491
García-González Igrid, López-Díaz Roger Iván, Canché-Pech José Reyes and 7 more
Genes: GSTT1, MTHFR, PON1
Epilepsy research | 2018-02-01 | PMID 29395496
Petrenaite Vaiva, Öhman Inger, Ekström Lena and 4 more
Vaccine | 2018-02-21 | PMID 29395522
Saini Savita, Ghosh Ayan Kumar, Das Sushmita and 8 more
Journal of dermatological science | 2018-05-01 | PMID 29395581
Jadeja Shahnawaz D, Mansuri Mohmmad Shoab, Singh Mala and 3 more
Genes: MTHFR
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2018-04-01 | PMID 29395620
Ji Shunrong, Yang Wenting, Liu Jiang and 5 more
Genes: MSH2, MSH6
Marine genomics | 2018-06-01 | PMID 29395623
Manousaki T, Tsakogiannis A, Lagnel J and 4 more
Brain & development | 2018-05-01 | PMID 29395663
Schirinzi Tommaso, Graziola Federica, Cusmai Raffaella and 8 more
Brain & development | 2018-05-01 | PMID 29395664
Nakamura Haruhiko, Uematsu Mitsugu, Numata-Uematsu Yurika and 11 more
Genes: HECW2, CDKL5, FOXG1, MECP2
Neuromuscular disorders : NMD | 2018-04-01 | PMID 29395675
Durmus Hacer, Shen Xin-Ming, Serdaroglu-Oflazer Piraye and 6 more
Genes: DOK7, CHRNE, COLQ, GFPT1
Diabetes & metabolism | 2018-03-01 | PMID 29395811
Ha K H, Kim S A, Lee Y M and 2 more
Journal of diabetes and its complications | 2018-03-01 | PMID 29395842
Liu Tingting, Li Changwei, Shen Luqi and 3 more
Cancer cell | 2018-02-12 | PMID 29395869
Sanclemente Manuel, Francoz Sarah, Esteban-Burgos Laura and 8 more
Genes: KRAS
Current biology : CB | 2018-02-05 | PMID 29395918
Mavridou Despoina A I, Gonzalez Diego, Kim Wook and 2 more
Current biology : CB | 2018-02-05 | PMID 29395925
Luan Junbo, Sun Xuepeng, Fei Zhangjun and 1 more
The Lancet. Infectious diseases | 2018-05-01 | PMID 29395996
van Laarhoven Arjan, Dian Sofiati, Aguirre-Gamboa Raúl and 18 more
The Lancet. Infectious diseases | 2018-05-01 | PMID 29396001
van Beek Janko, de Graaf Miranda, Al-Hello Haider and 29 more
Trends in immunology | 2018-05-01 | PMID 29396014
Kaufman Jim
Molecular genetics and metabolism | 2018-03-01 | PMID 29396029
Wilnai Yael, Blumenfeld Yair J, Cusmano Kristina and 19 more
Cytokine | 2018-10-01 | PMID 29396050
Mansour Amira Ibrahim, Behairy Ola Galal, Abd Almonaem Eman Rateb and 2 more
The Lancet. Haematology | 2018-03-01 | PMID 29396091
Jerkeman Mats, Eskelund Christian Winther, Hutchings Martin and 11 more
Developmental cell | 2018-02-26 | PMID 29396117
Park Misoon, Krause Cornelia, Karnahl Matthias and 13 more
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2018-05-01 | PMID 29396127
Lièvre Astrid, Merlin Jean-Louis, Sabourin Jean-Christophe and 9 more
Genes: KRAS, EGFR, NRAS
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver | 2018-05-01 | PMID 29396131
Trunečka Pavel, Míková Irena, Dlouhá Dana and 8 more
Genes: PNPLA3
Journal of genetics and genomics = Yi chuan xue bao | 2018-01-20 | PMID 29396143
Hu Liwen, Yao Xinyue, Huang Hairong and 6 more
International journal of medical microbiology : IJMM | 2018-03-01 | PMID 29396155
Panzenhagen Pedro Henrique N, Paul Narayan C, Conte Carlos A and 3 more
Genes: NTS
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2018-03-01 | PMID 29396171
Stagnaro Michela, Pisciotta Livia, Gherzi Marcella and 6 more
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2018-03-01 | PMID 29396176
Reale Chiara, Panteghini Celeste, Carecchio Miryam and 1 more
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2018-03-01 | PMID 29396177
Caporali Camilla, Signorini Sabrina, De Giorgis Valentina and 3 more
Genes: FOXG1, PRKD1
Journal of clinical lipidology | 2000-01-01 | PMID 29396260
Hartgers Merel L, Defesche Joep C, Langslet Gisle and 7 more
Genes: LDLR, LDLRAP1
Journal of clinical lipidology | 2000-01-01 | PMID 29396262
Tanaka Sho, Haketa Akira, Sakimoto Tohru and 1 more
Genes: APOA1
Molecular therapy : the journal of the American Society of Gene Therapy | 2018-03-07 | PMID 29396266
Vidal Patrice, Pagliarani Serena, Colella Pasqualina and 20 more
Genes: GAA
European urology focus | 2019-05-01 | PMID 29396293
Bagrodia Aditya, Audenet Francois, Pietzak Eugene J and 11 more
Genes: FGFR3, IMPACT, TERT
EBioMedicine | 2018-02-01 | PMID 29396294
Röver Lea Kristin, Gevensleben Heidrun, Dietrich Jörn and 4 more
Genes: CTLA4, ATRX, MGMT, PDCD1, TERT
EBioMedicine | 2018-02-01 | PMID 29396296
Jian Jinlong, Chen Yuehong, Liberti Rossella and 8 more
Genes: CHIT1
EBioMedicine | 2018-02-01 | PMID 29396305
Schooling C M, Huang J V, Zhao J V and 3 more
Genes: CETP, CXCL12, EDNRA, LPL, LRP1, PCSK9, PLG
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 2000-01-01 | PMID 29396353
Piralla Antonio, Principi Nicola, Ruggiero Luca and 9 more
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology | 2000-01-01 | PMID 29396354
He Chao, Germer Jeffrey J, Ptacek Elizabeth R and 3 more
Molecular metabolism | 2018-03-01 | PMID 29396370
Tran Khanh-Van, Fitzgibbons Timothy, Min So Yun and 2 more
Molecular metabolism | 2018-03-01 | PMID 29396371
Wang Xianming, Sterr Michael, Burtscher Ingo and 16 more
Genes: PDX1, DLL1, MEIS1
Nature communications | 2018-02-02 | PMID 29396395
Puri Sapna, Roy Nilotpal, Russ Holger A and 7 more
Scientific reports | 2018-02-02 | PMID 29396405
Li Jing, Feng Congrui, Li Liang and 5 more
Scientific reports | 2018-02-02 | PMID 29396409
Weerts M J A, Timmermans E C, Vossen R H A M and 7 more
Nature communications | 2018-02-02 | PMID 29396410
Caires-Júnior Luiz Carlos, Goulart Ernesto, Melo Uirá Souto and 39 more
Scientific reports | 2018-02-02 | PMID 29396413
Zhao Xiao-Mei, Xiang Zuo-Lin, Chen Yi-Xing and 3 more
Scientific reports | 2018-02-02 | PMID 29396419
Ono Hiroyuki, Saitsu Hirotomo, Horikawa Reiko and 7 more
Cell death & disease | 2018-02-02 | PMID 29396440
Li Linna, Su Ning, Zhou Ting and 5 more
Genes: ZEB1
Scientific reports | 2018-02-02 | PMID 29396492
Minnig Shawn, Bragg Robert M, Tiwana Hardeep S and 9 more
Scientific reports | 2018-02-02 | PMID 29396505
Jelinek Marisa, Wallach Charlotte, Ehmke Heimo and 1 more
Scientific reports | 2018-02-02 | PMID 29396510
Bassi Denis, Menossi Marcelo, Mattiello Lucia
Scientific reports | 2018-02-02 | PMID 29396532
Menezes Alison P A, Resende-Moreira Luciana C, Buzatti Renata S O and 5 more
Scientific reports | 2018-02-02 | PMID 29396559
Massé A, Domart-Coulon I, Golubic S and 2 more
European journal of human genetics : EJHG | 2018-04-01 | PMID 29396562
Douiev Liza, Abu-Libdeh Bassam, Saada Ann
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2018-05-01 | PMID 29396589
Qureshi Naeela, Bariana Harbans, Kumran Vikas Venu and 4 more
Current neurology and neuroscience reports | 2018-02-02 | PMID 29396598
Bi Wenya Linda, Larsen Alexandra Giantini, Dunn Ian F
Genes: GNAS, BRAF, USP8
Clinical and experimental medicine | 2018-08-01 | PMID 29396624
Sarecka-Hujar Beata, Kopyta Ilona, Skrzypek Michal
Genes: MTHFR
Archives of virology | 2018-05-01 | PMID 29396684
Hashem Anwar M, Azhar Esam I, Shalhoub Sarah and 6 more
Diabetologia | 2018-04-01 | PMID 29396691
Benitez-Aguirre Paul Z, Wong Tien Y, Craig Maria E and 10 more
Genes: ACR
Plant cell reports | 2018-05-01 | PMID 29396709
Xu Yunjian, Liu Fang, Han Guomin and 1 more
European journal of clinical pharmacology | 2018-05-01 | PMID 29396738
Zambon Carlo Federico, Pengo Vittorio, Moz Stefania and 7 more
Genes: VKORC1
Brain imaging and behavior | 2019-02-01 | PMID 29396739
Shu Hao, Shi Yongmei, Chen Gang and 11 more
Genes: APOE
Journal of industrial microbiology & biotechnology | 2018-03-01 | PMID 29396746
Liu Ling, Pan Jian, Wang Zilong and 6 more
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2018-04-01 | PMID 29396813
Zhu Ruixia, Liu Xu, He Zhiyi
Genes: CLU
Endocrine | 2018-04-01 | PMID 29396841
Dimitriadis Georgios K, Randeva Harpal S, Aftab Saboor and 8 more
Genes: SHBG
Neotropical entomology | 2018-08-01 | PMID 29396845
Domingos G M, Baldin E L L, Canassa V F and 2 more
American journal of hematology | 2018-05-01 | PMID 29396846
Russo Roberta, Andolfo Immacolata, Manna Francesco and 11 more
Genes: CDA, CAD, PIEZO1, PKLR
Clinical genetics | 2018-05-01 | PMID 29396849
Ou L, Przybilla M J, Whitley C B
Genes: GLB1
International journal of cancer | 2018-07-01 | PMID 29396856
Lan Bo, Ma Fei, Zhai Xiaoyu and 10 more
International journal of cancer | 2018-07-01 | PMID 29396858
Golan Talia, Stossel Chani, Atias Dikla and 18 more
Journal of clinical laboratory analysis | 2018-06-01 | PMID 29396861
Khalighi Koroush, Cheng Gang, Mirabbasi Seyedabbas and 3 more
Genes: MTHFR, CAD
The Plant journal : for cell and molecular biology | 2018-04-01 | PMID 29396988
Fristedt Rikard, Hu Chen, Wheatley Nicole and 8 more
Molecular ecology resources | 2018-05-01 | PMID 29397009
Hamilton Matthew B, Tartakovsky Maria, Battocletti Amy
Journal of viral hepatitis | 2018-05-01 | PMID 29397014
Walker A J, Peacock C J, Pedergnana V and 1 more
Genes: IFNL3, PNPLA3, TNF
Journal of viral hepatitis | 2018-07-01 | PMID 29397015
Luxenburger Hendrik, Graß Franziska, Baermann Janina and 7 more
Journal of viral hepatitis | 2018-07-01 | PMID 29397016
Preda C M, Popescu C P, Baicus C and 11 more
Journal of the European Academy of Dermatology and Venereology : JEADV | 2018-06-01 | PMID 29397027
Guerra L, Castori M, Didona B and 2 more
Journal of dairy science | 2018-04-01 | PMID 29397162
Tyrisevä A-M, Mäntysaari E A, Jakobsen J and 4 more
Journal of dairy science | 2018-04-01 | PMID 29397163
Zhang Fuxin, Gao Jiayuan, Wang Bini and 4 more
Journal of dairy science | 2018-04-01 | PMID 29397175
Johler S, Macori G, Bellio A and 3 more