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Select item 61173621.

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

Solveig Schulz, Martin A. Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim Kentouche

Eur J Hum Genet. 2018 Sep; 26(9): 1282–1287. Published online 2018 May 14. doi: 10.1038/s41431-018-0128-0

PMCID:: PMC6117362

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Select item 42076042.

A Gain-of-Function Mutation in Tnni2 Impeded Bone Development through Increasing Hif3a Expression in DA2B Mice

Xiaoquan Zhu, Fengchao Wang, Yanyang Zhao, Peng Yang, Jun Chen, Hanzi Sun, Lei Liu, Wenjun Li, Lin Pan, Yanru Guo, Zhaohui Kou, Yu Zhang, Cheng Zhou, Jiang He, Xue Zhang, Jianxin Li, Weitian Han, Jian Li, Guanghui Liu, Shaorong Gao, Ze Yang

PLoS Genet. 2014 Oct; 10(10): e1004589. Published online 2014 Oct 23. doi: 10.1371/journal.pgen.1004589

PMCID:: PMC4207604

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Select item 58180093.

The developmental and genetic basis of ‘clubfoot’ in the peroneal muscular atrophy mutant mouse

J. Martin Collinson, Nils O. Lindström, Carlos Neves, Karen Wallace, Caroline Meharg, Rebecca H. Charles, Zoe K. Ross, Amy M. Fraser, Ivan Mbogo, Kadri Oras, Masaru Nakamoto, Simon Barker, Suzanne Duce, Zosia Miedzybrodzka, Neil Vargesson

Development. 2018 Feb 1; 145(3): dev160093. doi: 10.1242/dev.160093

PMCID:: PMC5818009

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Select item 103315214.

Evaluation of Fetal and Maternal Outcomes in Chorion Villus Sampling (CVS)

Minoo Movahedi, Farinaz Farahbod, Elahe Zarean, Maryam Hajihashemi, Fedyeh Haghollahi, Mehri Farahmand

Adv Biomed Res. 2023; 12: 133. Published online 2023 May 19. doi: 10.4103/abr.abr_229_22

PMCID:: PMC10331521

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Select item 101627635.

Focal Dermal Hypoplasia: Case Series

Maria Mansouri, Fatima Zohra Bouzid, Said. Amal, Oufae Hocar, Nissrine Aboussair

Indian J Dermatol. 2023 Jan-Feb; 68(1): 122. doi: 10.4103/ijd.ijd_508_22

PMCID:: PMC10162763

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Select item 101518296.

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger

Dis Model Mech. 2023 Apr 1; 16(4): dmm049977. Published online 2023 Apr 21. doi: 10.1242/dmm.049977

PMCID:: PMC10151829

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Select item 95295437.

A case of acheiria

Ali Al-Smair, Abdel Rahman M. Jaber, Mohammad H. Abu-Suailiek, Taghleb Al-Awad, Ahmad Saadeh

Radiol Case Rep. 2022 Dec; 17(12): 4710–4712. Published online 2022 Sep 30. doi: 10.1016/j.radcr.2022.09.023

PMCID:: PMC9529543

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Select item 83857558.

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, Yi Dong, Ju-Yu Tang, Rong Xiang

Front Genet. 2021; 12: 705973. Published online 2021 Aug 11. doi: 10.3389/fgene.2021.705973

PMCID:: PMC8385755

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Select item 72891409.

Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors

Leendert H.J. Looijenga, Theodorus H. Van der Kwast, David Grignon, Lars Egevad, Glen Kristiansen, Chia-Sui Kao, Muhammad T. Idrees

Am J Surg Pathol. 2020 Jul; 44(7): e66–e79. Published online 2020 Mar 20. doi: 10.1097/PAS.0000000000001465

PMCID:: PMC7289140

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Select item 601397710.

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation

Anna Zlotina, Artem Kiselev, Alexey Sergushichev, Elena Parmon, Anna Kostareva

Front Genet. 2018; 9: 209. Published online 2018 Jun 15. doi: 10.3389/fgene.2018.00209

PMCID:: PMC6013977

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Select item 573395911.

Prenatal Diagnosis of Thoracoschisis and Review of Literature

Hasaruddin R. Hanafi, Zahar A. Zakaria

Case Rep Obstet Gynecol. 2017; 2017: 9821213. Published online 2017 Nov 16. doi: 10.1155/2017/9821213

PMCID:: PMC5733959

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Select item 569686512.

Unexpected findings at diagnostic laparoscopy: caecal incarceration with concurrent appendicitis in a patient with bilateral broad ligament defects

S Onida, K Lynes, BA Ozdemir, PA Whitehouse

Ann R Coll Surg Engl. 2010 Sep; 92(6): e19–e20. Published online 2010 Sep. doi: 10.1308/147870810X12699662981159

PMCID:: PMC5696865

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Select item 438108913.

Postmortem magnetic resonance appearances of congenital high airway obstruction syndrome

Owen J. Arthurs, Lyn S. Chitty, Lydia Judge-Kronis, Neil J. Sebire

Pediatr Radiol. 2015; 45(4): 556–561. Published online 2014 Sep 5. doi: 10.1007/s00247-014-3133-7

PMCID:: PMC4381089

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Select item 380806014.

Elementary school enrolment and its determinants among children with cerebral palsy in Thiruvananthapuram district, Kerala, India

Thekkumkara Surendran Nair Anish, Reshmi Ramachandran, P Sivaram, Seetha Mohandas, Archana Sasidharan, Pallipurathu Reghunathan Nair Sreelakshmi

J Neurosci Rural Pract. 2013 Aug; 4(Suppl 1): S40–S44. doi: 10.4103/0976-3147.116446

PMCID:: PMC3808060

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Select item 1069009615.

Randomized Phase II Trial of Dendritic Cell/Myeloma Fusion Vaccine with Lenalidomide Maintenance after Upfront Autologous Hematopoietic Cell Transplantation for Multiple Myeloma: BMT CTN 1401

David J. Chung, Nina Shah, Juan Wu, Brent Logan, Lina Bisharat, Natalie Callander, Giulia Cheloni, Kenneth Anderson, Thinle Chodon, Binod Dhakal, Steve Devine, Poorvi Somaiya Dutt, Yvonne Efebera, Nancy Geller, Haider Ghiasuddin, Peiman Hematti, Leona Holmberg, Alan Howard, Bryon Johnson, Dimitra Karagkouni, Hillard M. Lazarus, Ehsan Malek, Philip McCarthy, David McKenna, Adam Mendizabal, Ajay Nooka, Nikhil Munshi, Lynn O'Donnell, Aaron P. Rapoport, Jane Reese, Jacalyn Rosenblatt, Robert Soiffer, Dina Stroopinsky, Lynne Uhl, Ioannis S. Vlachos, Edmund K. Waller, James W. Young, Marcelo C. Pasquini, David Avigan

Clin Cancer Res. 2023 Dec 1; 29(23): 4784–4796. Published online 2023 Jul 18. doi: 10.1158/1078-0432.CCR-23-0235

PMCID:: PMC10690096

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Select item 1068034516.

Comparative mitochondrial genome analysis of three leafhopper species of the genus Abrus Dai & Zhang (Hemiptera: Cicadellidae: Deltocephalinae) from China with phylogenetic implication

Muhammad Asghar Hassan, Zhixiang Tan, Rongrong Shen, Jichun Xing

BMC Genomics. 2023; 24: 714. Published online 2023 Nov 27. doi: 10.1186/s12864-023-09809-0

PMCID:: PMC10680345

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Select item 1068024017.

Wheat stripe rust resistance locus YR63 is a hot spot for evolution of defence genes – a pangenome discovery

Amy Mackenzie, Michael Norman, Mesfin Gessese, Chunhong Chen, Chris Sørensen, Mogens Hovmøller, Lina Ma, Kerrie Forrest, Lee Hickey, Harbans Bariana, Urmil Bansal, Sambasivam Periyannan

BMC Plant Biol. 2023; 23: 590. Published online 2023 Nov 27. doi: 10.1186/s12870-023-04576-2

PMCID:: PMC10680240

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Select item 1067393518.

Tamoxifen for the treatment of myeloproliferative neoplasms: A Phase II clinical trial and exploratory analysis

Zijian Fang, Giuditta Corbizi Fattori, Thomas McKerrell, Rebecca H. Boucher, Aimee Jackson, Rachel S. Fletcher, Dorian Forte, Jose-Ezequiel Martin, Sonia Fox, James Roberts, Rachel Glover, Erica Harris, Hannah R. Bridges, Luigi Grassi, Alba Rodriguez-Meira, Adam J. Mead, Steven Knapper, Joanne Ewing, Nauman M. Butt, Manish Jain, Sebastian Francis, Fiona J. Clark, Jason Coppell, Mary F. McMullin, Frances Wadelin, Srinivasan Narayanan, Dragana Milojkovic, Mark W. Drummond, Mallika Sekhar, Hesham ElDaly, Judy Hirst, Maike Paramor, E. Joanna Baxter, Anna L. Godfrey, Claire N. Harrison, Simón Méndez-Ferrer

Nat Commun. 2023; 14: 7725. Published online 2023 Nov 25. doi: 10.1038/s41467-023-43175-5

PMCID:: PMC10673935

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Select item 1067130619.

Mapping of a Stripe Rust Resistance Gene Yr72 in the Common Wheat Landraces AUS27506 and AUS27894 from the Watkins Collection

Mumta Chhetri, Hanif Miah, Debbie Wong, Matthew Hayden, Urmil Bansal, Harbans Bariana

Genes (Basel) 2023 Nov; 14(11): 1993. Published online 2023 Oct 25. doi: 10.3390/genes14111993

PMCID:: PMC10671306

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Select item 1067006220.

Proteasome Inhibitors against Glioblastoma—Overview of Molecular Mechanisms of Cytotoxicity, Progress in Clinical Trials, and Perspective for Use in Personalized Medicine

Agata Gozdz

Curr Oncol. 2023 Nov; 30(11): 9676–9688. Published online 2023 Nov 2. doi: 10.3390/curroncol30110702

PMCID:: PMC10670062

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