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  1. 181
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    Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
  2. 182
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    Histological and Somatic Mutational Profiles of Mismatch Repair Deficient Endometrial Tumours of Different Aetiologies
  3. 183
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    A sumoylation program is essential for maintaining the mitotic fidelity in proliferating mantle cell lymphoma cells
  4. 184
    por Badran, Ahmed, Bargman, Renee
    Publicado 2020
    “…Physical examination showed macrocephaly with frontal bossing, widening of the wrists and rachitic rosaries. …”
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    SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation
  5. 185
    “…Clinical case: A 3-year-old Caucasian female with CFC3 (macrocephaly, frontal bossing, wide nasal root with depressed bridge, anteverted nares, low set fleshy ears, congenital pulmonic valve stenosis, postnatal growth deficiency, hypotonia, and neurocognitive impairment) due to a de novo heterozygous c.389A>G, p.Tyr130Cys pathogenic variant in MAP2K1, presented with extremely elevated serum total cholesterol of 446 mg/dL, triglycerides of 239 mg/dL, HDL-cholesterol of 53 mg/dL, LDL-C of 335 mg/dL (normal range < 110 mg/dL) and serum apolipoprotein B level 219 mg/dL (normal range < 90 mg/dL). …”
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    Diet-Responsive Hypercholesterolemia With Cardiofaciocutaneous Syndrome Type 3
  6. 186
    por Cramer, Estee Y., Ray, Evan L., Lopez, Velma K., Bracher, Johannes, Brennen, Andrea, Castro Rivadeneira, Alvaro J., Gerding, Aaron, Gneiting, Tilmann, House, Katie H., Huang, Yuxin, Jayawardena, Dasuni, Kanji, Abdul H., Khandelwal, Ayush, Le, Khoa, Mühlemann, Anja, Niemi, Jarad, Shah, Apurv, Stark, Ariane, Wang, Yijin, Wattanachit, Nutcha, Zorn, Martha W., Gu, Youyang, Jain, Sansiddh, Bannur, Nayana, Deva, Ayush, Kulkarni, Mihir, Merugu, Srujana, Raval, Alpan, Shingi, Siddhant, Tiwari, Avtansh, White, Jerome, Abernethy, Neil F., Woody, Spencer, Dahan, Maytal, Fox, Spencer, Gaither, Kelly, Lachmann, Michael, Meyers, Lauren Ancel, Scott, James G., Tec, Mauricio, Srivastava, Ajitesh, George, Glover E., Cegan, Jeffrey C., Dettwiller, Ian D., England, William P., Farthing, Matthew W., Hunter, Robert H., Lafferty, Brandon, Linkov, Igor, Mayo, Michael L., Parno, Matthew D., Rowland, Michael A., Trump, Benjamin D., Zhang-James, Yanli, Chen, Samuel, Faraone, Stephen V., Hess, Jonathan, Morley, Christopher P., Salekin, Asif, Wang, Dongliang, Corsetti, Sabrina M., Baer, Thomas M., Eisenberg, Marisa C., Falb, Karl, Huang, Yitao, Martin, Emily T., McCauley, Ella, Myers, Robert L., Schwarz, Tom, Sheldon, Daniel, Gibson, Graham Casey, Yu, Rose, Gao, Liyao, Ma, Yian, Wu, Dongxia, Yan, Xifeng, Jin, Xiaoyong, Wang, Yu-Xiang, Chen, YangQuan, Guo, Lihong, Zhao, Yanting, Gu, Quanquan, Chen, Jinghui, Wang, Lingxiao, Xu, Pan, Zhang, Weitong, Zou, Difan, Biegel, Hannah, Lega, Joceline, McConnell, Steve, Nagraj, V. P., Guertin, Stephanie L., Hulme-Lowe, Christopher, Turner, Stephen D., Shi, Yunfeng, Ban, Xuegang, Walraven, Robert, Hong, Qi-Jun, Kong, Stanley, van de Walle, Axel, Turtle, James A., Ben-Nun, Michal, Riley, Steven, Riley, Pete, Koyluoglu, Ugur, DesRoches, David, Forli, Pedro, Hamory, Bruce, Kyriakides, Christina, Leis, Helen, Milliken, John, Moloney, Michael, Morgan, James, Nirgudkar, Ninad, Ozcan, Gokce, Piwonka, Noah, Ravi, Matt, Schrader, Chris, Shakhnovich, Elizabeth, Siegel, Daniel, Spatz, Ryan, Stiefeling, Chris, Wilkinson, Barrie, Wong, Alexander, Cavany, Sean, España, Guido, Moore, Sean, Oidtman, Rachel, Perkins, Alex, Kraus, David, Kraus, Andrea, Gao, Zhifeng, Bian, Jiang, Cao, Wei, Ferres, Juan Lavista, Li, Chaozhuo, Liu, Tie-Yan, Xie, Xing, Zhang, Shun, Zheng, Shun, Vespignani, Alessandro, Chinazzi, Matteo, Davis, Jessica T., Mu, Kunpeng, Pastore y Piontti, Ana, Xiong, Xinyue, Zheng, Andrew, Baek, Jackie, Farias, Vivek, Georgescu, Andreea, Levi, Retsef, Sinha, Deeksha, Wilde, Joshua, Perakis, Georgia, Bennouna, Mohammed Amine, Nze-Ndong, David, Singhvi, Divya, Spantidakis, Ioannis, Thayaparan, Leann, Tsiourvas, Asterios, Sarker, Arnab, Jadbabaie, Ali, Shah, Devavrat, Della Penna, Nicolas, Celi, Leo A., Sundar, Saketh, Wolfinger, Russ, Osthus, Dave, Castro, Lauren, Fairchild, Geoffrey, Michaud, Isaac, Karlen, Dean, Kinsey, Matt, Mullany, Luke C., Rainwater-Lovett, Kaitlin, Shin, Lauren, Tallaksen, Katharine, Wilson, Shelby, Lee, Elizabeth C., Dent, Juan, Grantz, Kyra H., Hill, Alison L., Kaminsky, Joshua, Kaminsky, Kathryn, Keegan, Lindsay T., Lauer, Stephen A., Lemaitre, Joseph C., Lessler, Justin, Meredith, Hannah R., Perez-Saez, Javier, Shah, Sam, Smith, Claire P., Truelove, Shaun A., Wills, Josh, Marshall, Maximilian, Gardner, Lauren, Nixon, Kristen, Burant, John C., Wang, Lily, Gao, Lei, Gu, Zhiling, Kim, Myungjin, Li, Xinyi, Wang, Guannan, Wang, Yueying, Yu, Shan, Reiner, Robert C., Barber, Ryan, Gakidou, Emmanuela, Hay, Simon I., Lim, Steve, Murray, Chris, Pigott, David, Gurung, Heidi L., Baccam, Prasith, Stage, Steven A., Suchoski, Bradley T., Prakash, B. Aditya, Adhikari, Bijaya, Cui, Jiaming, Rodríguez, Alexander, Tabassum, Anika, Xie, Jiajia, Keskinocak, Pinar, Asplund, John, Baxter, Arden, Oruc, Buse Eylul, Serban, Nicoleta, Arik, Sercan O., Dusenberry, Mike, Epshteyn, Arkady, Kanal, Elli, Le, Long T., Li, Chun-Liang, Pfister, Tomas, Sava, Dario, Sinha, Rajarishi, Tsai, Thomas, Yoder, Nate, Yoon, Jinsung, Zhang, Leyou, Abbott, Sam, Bosse, Nikos I., Funk, Sebastian, Hellewell, Joel, Meakin, Sophie R., Sherratt, Katharine, Zhou, Mingyuan, Kalantari, Rahi, Yamana, Teresa K., Pei, Sen, Shaman, Jeffrey, Li, Michael L., Bertsimas, Dimitris, Lami, Omar Skali, Soni, Saksham, Bouardi, Hamza Tazi, Ayer, Turgay, Adee, Madeline, Chhatwal, Jagpreet, Dalgic, Ozden O., Ladd, Mary A., Linas, Benjamin P., Mueller, Peter, Xiao, Jade, Wang, Yuanjia, Wang, Qinxia, Xie, Shanghong, Zeng, Donglin, Green, Alden, Bien, Jacob, Brooks, Logan, Hu, Addison J., Jahja, Maria, McDonald, Daniel, Narasimhan, Balasubramanian, Politsch, Collin, Rajanala, Samyak, Rumack, Aaron, Simon, Noah, Tibshirani, Ryan J., Tibshirani, Rob, Ventura, Valerie, Wasserman, Larry, O’Dea, Eamon B., Drake, John M., Pagano, Robert, Tran, Quoc T., Ho, Lam Si Tung, Huynh, Huong, Walker, Jo W., Slayton, Rachel B., Johansson, Michael A., Biggerstaff, Matthew, Reich, Nicholas G.
    Publicado 2022
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    Evaluation of individual and ensemble probabilistic forecasts of COVID-19 mortality in the United States
  7. 187
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    Single-Prolonged Stress Impairs Prefrontal Cortex Control of Amygdala and Striatum in Rats
  8. 188
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    Overexpression of AmpC Promotes Bacteriophage Lysis of Ampicillin-Resistant Escherichia coli
  9. 189
    “…The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. …”
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    Same Phenotype in Children with Growth Hormone Deficiency and Resistance
  10. 190
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    Immediate Outcome Indicators in Perioperative Care: A Controlled Intervention Study on Quality Improvement in Hospitals in Tanzania
  11. 191
    “…Biochemically, patients present normal to high circulating GH levels, in presence of very low or undetectable IGF-I levels, which do not rise after rhGH treatment. …”
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    Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report
  12. 192
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    Cost-effectiveness of peer role play and standardized patients in undergraduate communication training
  13. 193
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    Human Genetic Susceptibility to Native Valve Staphylococcus aureus Endocarditis in Patients With S. aureus Bacteremia: Genome-Wide Association Study
  14. 194
    “…In peripheral blood smear, platelets were decreased but other hematological levels were normal. The karyotype result indicated a mosaic monosomy and partial monosomy of chromosome 21. …”
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    Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
  15. 195
    “…Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. …”
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    Cystinosis Presenting with Findings of Bartter Syndrome
  16. 196
    “…Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down‐slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. …”
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    Primrose syndrome: Characterization of the phenotype in 42 patients
  17. 197
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    Asthma and genes encoding components of the vitamin D pathway
  18. 198
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    Genome-Wide Characterization of Selection Signatures and Runs of Homozygosity in Ugandan Goat Breeds
  19. 199
    “…CONCLUSION: POD1 GH and short-term postoperative IGF-1 levels can be used to successfully predict immediate and long-term hormonal remission respectively. …”
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    Postoperative GH and Degree of Reduction in IGF-1 Predicts Postoperative Hormonal Remission in Acromegaly
  20. 200
    “…Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal fraying and widening of growth plates, in conjunction with elevated serum levels of alkaline phosphatase. …”
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    Rickets guidance: part I—diagnostic workup
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