نتائج البحث - Ji, Weizhen

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype حسب AbuBakr, Fatima, Jeffries, Lauren, Ji, Weizhen, McGrath, James M., Lakhani, Saquib A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure حسب Criscione, June, Ji, Weizhen, Jeffries, Lauren, McGrath, James M., Soloway, Scott, Pusztai, Lajos, Lakhani, Saquib

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma حسب Peng, Gang, Chai, Hongyan, Ji, Weizhen, Lu, Yufei, Wu, Shengming, Zhao, Hongyu, Li, Peining, Hu, Qiping

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

De novo damaging variants associated with congenital heart diseases contribute to the connectome حسب Ji, Weizhen, Ferdman, Dina, Copel, Joshua, Scheinost, Dustin, Shabanova, Veronika, Brueckner, Martina, Khokha, Mustafa K., Ment, Laura R.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Whole exome sequencing of adult and pediatric cohorts of the rare vascular disorder Systemic Capillary Leak Syndrome حسب Pierce, Richard, Ji, Weizhen, Chan, Eunice C., Xie, Zhihui, Long, Lauren M., Khokha, Mustafa, Lakhani, Saquib, Druey, Kirk M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum حسب Kiraly-Borri, Catherine, Jevon, Gareth, Ji, Weizhen, Jeffries, Lauren, Ricciardi, Jamie-Lee, Konstantino, Monica, Ackerman, Kate G., Lakhani, Saquib A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report حسب Sandokji, Ibrahim, Marquez, Jonathan, Ji, Weizhen, Zerillo, Cynthia A., Konstantino, Monica, Lakhani, Saquib A., Khokha, Mustafa K., Warejko, Jillian K.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Rare independent mutations in renal salt handling genes contribute to blood pressure variation حسب Ji, Weizhen, Foo, Jia Nee, O'Roak, Brian J., Zhao, Hongyu, Larson, Martin G., Simon, David B., Newton-Cheh, Christopher, State, Matthew W., Levy, Daniel, Lifton, Richard P.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing حسب Choi, Murim, Scholl, Ute I., Ji, Weizhen, Liu, Tiewen, Tikhonova, Irina R., Zumbo, Paul, Nayir, Ahmet, Bakkaloğlu, Ayșin, Özen, Seza, Sanjad, Sami, Nelson-Williams, Carol, Farhi, Anita, Mane, Shrikant, Lifton, Richard P.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

TBX5 variant with the novel phenotype of mixed-type total anomalous pulmonary venous return in Holt-Oram Syndrome and variable intrafamilial heart defects حسب Azab, Bilal, Aburizeg, Dunia, Ji, Weizhen, Jeffries, Lauren, Isbeih, Nooredeen Jamal, Al-Akily, Amal Saleh, Mohammad, Hashim, Osba, Yousef Abu, Shahin, Mohammad A., Dardas, Zain, Hatmal, Ma'mon M., Al-Ammouri, Iyad, Lakhani, Saquib

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants حسب Landim-Vieira, Maicon, Johnston, Jamie R., Ji, Weizhen, Mis, Emily K., Tijerino, Joshua, Spencer-Manzon, Michele, Jeffries, Lauren, Hall, E. Kevin, Panisello-Manterola, David, Khokha, Mustafa K., Deniz, Engin, Chase, P. Bryant, Lakhani, Saquib A., Pinto, Jose Renato

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia حسب Werner, Kelly M., Cox, Allison J., Qian, Emily, Jain, Preti, Ji, Weizhen, Tikhonova, Irina, Castaldi, Christopher, Bilguvar, Kaya, Knight, James, Ferdinandusse, Sacha, Fawaz, Rima, Jiang, Yong-Hui, Gallagher, Patrick G., Bizzarro, Matthew, Gruen, Jeffrey R., Bale, Allen, Zhang, Hui

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

An expansion of NEUROD2 phenotypes to include developmental delay without seizures حسب Mis, Emily K., Sega, Annalisa G., Signer, Rebecca H., Cartwright, Tracy, Ji, Weizhen, Martinez-Agosto, Julian A., Nelson, Stanley F., Palmer, Christina G. S., Lee, Hane, Mitzelfelt, Thomas, Konstantino, Monica, Jeffries, Lauren, Khokha, Mustafa K., Marco, Elysa, Martin, Martin G., Lakhani, Saquib A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

K(+) Channel Mutations in Adrenal Aldosterone-Producing Adenomas and Hereditary Hypertension حسب Choi, Murim, Scholl, Ute I., Yue, Peng, Björklund, Peyman, Zhao, Bixiao, Nelson-Williams, Carol, Ji, Weizhen, Cho, Yoonsang, Patel, Aniruddh, Men, Clara J., Lolis, Elias, Wisgerhof, Max V., Geller, David S., Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Wang, Wenhui, Carling, Tobias, Lifton, Richard P.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes حسب Marquez, Jonathan, Mann, Nina, Arana, Kathya, Deniz, Engin, Ji, Weizhen, Konstantino, Monica, Mis, Emily K, Deshpande, Charu, Jeffries, Lauren, McGlynn, Julie, Hugo, Hannah, Widmeier, Eugen, Konrad, Martin, Tasic, Velibor, Morotti, Raffaella, Baptista, Julia, Ellard, Sian, Lakhani, Saquib Ali, Hildebrandt, Friedhelm, Khokha, Mustafa K

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Exome Sequencing Links Mutations in PARN and RTEL1 with Familial Pulmonary Fibrosis and Telomere Shortening حسب Stuart, Bridget D., Choi, Jungmin, Zaidi, Samir, Xing, Chao, Holohan, Brody, Chen, Rui, Choi, Mihwa, Dharwadkar, Pooja, Torres, Fernando, Girod, Carlos E., Weissler, Jonathan, Fitzgerald, John, Kershaw, Corey, Klesney-Tait, Julia, Mageto, Yolanda, Shay, Jerry W., Ji, Weizhen, Bilguvar, Kaya, Mane, Shrikant, Lifton, Richard P., Garcia, Christine Kim

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation حسب Tyler, Paul M., Bucklin, Molly L., Zhao, Mengting, Maher, Timothy J., Rice, Andrew J., Ji, Weizhen, Warner, Neil, Pan, Jie, Morotti, Raffaella, McCarthy, Paul, Griffiths, Anne, van Rossum, Annemarie M.C., Hollink, Iris H.I.M., Dalm, Virgil A.S.H., Catanzaro, Jason, Lakhani, Saquib A., Muise, Aleixo M., Lucas, Carrie L.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons حسب Griesi-Oliveira, Karina, Acab, Allan, Gupta, Abha R., Sunaga, Daniele Yumi, Chailangkarn, Thanathom, Nicol, Xavier, Nunez, Yanelli, Walker, Michael F., Murdoch, John D., Sanders, Stephan J., Fernandez, Thomas V., Ji, Weizhen, Lifton, Richard P., Vadasz, Estevão, Dietrich, Alexander, Pradhan, Dennis, Song, Hongjun, Ming, Guo-li, Guoe, Xiang, Haddad, Gabriel, Marchetto, Maria C. N., Spitzer, Nicholas, Passos-Bueno, Maria Rita, State, Matthew W., Muotri, Alysson R.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome حسب Lemaire, Mathieu, Frémeaux-Bacchi, Véronique, Schaefer, Franz, Choi, Murim, Tang, Wai Ho, Le Quintrec, Moglie, Fakhouri, Fadi, Taque, Sophie, Nobili, François, Martinez, Frank, Ji, Weizhen, Overton, John D., Mane, Shrikant M., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Morin, Denis, Deschenes, Georges, Baudouin, Véronique, Llanas, Brigitte, Collard, Laure, Majid, Mohammed A., Simkova, Eva, Nürnberg, Peter, Rioux-Leclerc, Nathalie, Moeckel, Gilbert W., Gubler, Marie Claire, Hwa, John, Loirat, Chantal, Lifton, Richard P.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae حسب Lowe, Jennifer K., Maller, Julian B., Pe'er, Itsik, Neale, Benjamin M., Salit, Jacqueline, Kenny, Eimear E., Shea, Jessica L., Burkhardt, Ralph, Smith, J. Gustav, Ji, Weizhen, Noel, Martha, Foo, Jia Nee, Blundell, Maude L., Skilling, Vita, Garcia, Laura, Sullivan, Marcia L., Lee, Heather E., Labek, Anna, Ferdowsian, Hope, Auerbach, Steven B., Lifton, Richard P., Newton-Cheh, Christopher, Breslow, Jan L., Stoffel, Markus, Daly, Mark J., Altshuler, David M., Friedman, Jeffrey M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل