Результаты поиска - Lalani, Seema R.
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Overgrowth Syndromes—Evaluation, Diagnosis, and Management по Manor, Joshua, Lalani, Seema R.
Опубликовано 2020Текст -
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Genetic Basis of Congenital Cardiovascular Malformations по Lalani, Seema R., Belmont, John W.
Опубликовано 2014Текст -
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Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child по Streff, Haley, Bi, Weimin, Miyake, Christina Y., Colón, Athos G., Adesina, Adekunle M., Lalani, Seema R.
Опубликовано 2018Текст -
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Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects по Cowan, Jason R., Tariq, Muhammad, Shaw, Chad, Rao, Mitchell, Belmont, John W., Lalani, Seema R., Smolarek, Teresa A., Ware, Stephanie M.
Опубликовано 2016Текст -
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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability по Grau, Christina, Starkovich, Molly, Azamian, Mahshid S., Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R., Scott, Daryl A.
Опубликовано 2017Текст -
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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder по Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs
Опубликовано 2019Текст -
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TGFBR2 Deletion in a 20-Month-Old Female With Developmental Delay and Microcephaly по Campbell, Ian M., Kolodziejska, Katarzyna E., Quach, Michael M., Wolf, Varina Louise, Cheung, Sau Wai, Lalani, Seema R., Ramocki, Melissa B., Stankiewicz, Pawel
Опубликовано 2011Текст -
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Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH по Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Liu, Pengfei, Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.
Опубликовано 2022Текст -
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Copy Number Variants of Undetermined Significance are not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome по Dailey-Schwartz, Andrew L., Tadros, Hanna J., Azamian, Mahshid Sababi, Lalani, Seema R., Morris, Shaine A, Allen, Hugh D., Kim, Jeffrey J., Landstrom, Andrew P.
Опубликовано 2018Текст -
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Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach по Hinton, Robert B., McBride, Kim L., Bleyl, Steven B., Bowles, Neil E., Border, William L., Garg, Vidu, Smolarek, Teresa A., Lalani, Seema R., Ware, Stephanie M.
Опубликовано 2015Текст -
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CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly and pigmentary abnormalities по Leduc, Magalie S., Niu, Zhiyv, Bi, Weimin, Zhu, Wenmiao, Miloslavskaya, Irene, Chiang, Theodore, Streff, Haley, Seavitt, John R., Murray, Steve, Eng, Christine, Chan, Audrey, Yang, Yaping, Lalani, Seema R.
Опубликовано 2016Текст -
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SNP genotyping to screen for a common deletion in CHARGE Syndrome по Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, Glass, Nancy L, Towbin, Jeffrey A, Craigen, William J, Belmont, John W
Опубликовано 2005Текст