Molecular profiling of melanocortin 4 receptor variants and agouti-related peptide interactions in morbid obese phenotype: a novel paradigm from molecular docking and dynamics simulations
Bima, Abdulhadi Ibrahim Hussain, Elsamanoudy, Ayman Zaky, Alghamdi, Kawthar Saad, Shinawi, Thoraia, Mujalli, Abdulrahman, Kaipa, Prabhakar Rao, Aljeaid, Deema, Awan, Zuhier, Shaik, Noor Ahmad, Banaganapalli, Babajan
Published in Biológia (01.05.2022)
Published in Biológia (01.05.2022)
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Journal Article
Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency
Shaik, Noor Ahmad, Saud Al-Saud, Najla Bint, Abdulhamid Aljuhani, Thamer, Jamil, Kaiser, Alnuman, Huda, Aljeaid, Deema, Sultana, Nasreen, El-Harouni, Ashraf AbdulRahman, Awan, Zuhier Ahmed, Elango, Ramu, Banaganapalli, Babajan
Published in Frontiers in molecular biosciences (24.11.2022)
Published in Frontiers in molecular biosciences (24.11.2022)
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Journal Article
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Claire Y., Severino, Mariasavina, Divizia, Maria Teresa, Striano, Pasquale, Ordonez-Herrera, Natalia, Alhashem, Amal, Al Fares, Ahmed, Al Ghamdi, Malak, Rolfs, Arndt, Bauer, Peter, Demmers, Jeroen, Verheijen, Frans W., Wilke, Martina, van Slegtenhorst, Marjon, van der Spek, Peter J., Seri, Marco, Jansen, Anna C., Stottmann, Rolf W., Hufnagel, Robert B., Hopkin, Robert J., Aljeaid, Deema, Wiszniewski, Wojciech, Gawlinski, Pawel, Laure-Kamionowska, Milena, Alkuraya, Fowzan S., Akleh, Hanah, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Zaki, Maha S., Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Davidov, Bella, Basel-Salmon, Lina, Bazak, Lily, Shahar, Noa Ruhrman, Bertoli-Avella, Aida, Mirzaa, Ghayda M., Dobyns, William B., Pippucci, Tommaso, Fornerod, Maarten, Mancini, Grazia M.S.
Published in American journal of human genetics (03.10.2019)
Published in American journal of human genetics (03.10.2019)
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Journal Article
Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome
Monteil, Danielle C., Shikany, Amy, Aljeaid, Deema, Parrott, Ashley, Tretter, Justin T., James, Jeanne, Martin, Lisa J., Weaver, K. Nicole
Published in The Journal of pediatrics (01.06.2020)
Published in The Journal of pediatrics (01.06.2020)
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Journal Article
Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy
Aljeaid, Deema, Sanchez, Ana Isabel, Wakefield, Emily, Chadwell, Sarah E., Moore, Nicole, Prada, Carlos E., Zhang, Wenying
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
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Journal Article
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations
Grand, Katheryn, Gonzalez‐Gandolfi, Christina, Ackermann, Amanda M., Aljeaid, Deema, Bedoukian, Emma, Bird, Lynne M., De Leon, Diva D., Diaz, Jullianne, Hopkin, Robert J., Kadakia, Sejal P., Keena, Beth, Klein, Karen O., Krantz, Ian, Leon, Eyby, Lord, Katherine, McDougall, Carey, Medne, Livija, Skraban, Cara M., Stanley, Charles A., Tarpinian, Jennifer, Zackai, Elaine, Deardorff, Matthew A., Kalish, Jennifer M.
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
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Journal Article
39. Lessons learned from supplementary testing in constitutional and hematologic cases
Smolarek, Teresa A., Sund, Kristen, Smith, Nicki, Aljeaid, Deema, Alonso, Priscila Badia, Francisco, Brenton, Long, Pamela, Rubinstein, Jeremy, Lorsbach, Robert, Perentesis, John, Phillips, Christine, Weaver, K. Nicole, Dyer, Lisa
Published in Cancer genetics (01.08.2018)
Published in Cancer genetics (01.08.2018)
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