Resultados de búsqueda - Rosenfeld, Jill A.
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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature por Callaway, Jonathan L A, Shaffer, Lisa G, Chitty, Lyn S, Rosenfeld, Jill A, Crolla, John A
Publicado 2013Texto -
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Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report por Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C
Publicado 2009Texto -
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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications por Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.
Publicado 2009Texto -
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Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome por Rosenfeld, Jill A., Ballif, Blake C., Lucas, Ann, Spence, Edward J., Powell, Cynthia, Aylsworth, Arthur S., Torchia, Beth A., Shaffer, Lisa G.
Publicado 2009Texto -
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Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population v... por Headrick, Andrew T., Rosenfeld, Jill A., Yang, Yaping, Tunuguntla, Hari, Allen, Hugh D., Penny, Daniel J., Kim, Jeffrey J., Landstrom, Andrew P.
Publicado 2019Texto -
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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders por Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.
Publicado 2014Texto -
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Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders por Rossi, Joseph J., Rosenfeld, Jill A., Chan, Katie M., Streff, Haley, Nankivell, Victoria, Peet, Daniel J., Whitelaw, Murray L., Bersten, David C.
Publicado 2021Texto -
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Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures por Williams, Stephen R, Mullegama, Sureni V, Rosenfeld, Jill A, Dagli, Aditi I, Hatchwell, Eli, Allen, William P, Williams, Charles A, Elsea, Sarah H
Publicado 2010Texto -
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Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH por Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Liu, Pengfei, Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.
Publicado 2022Texto -
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Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints por Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.
Publicado 2010Texto -
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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH por Neill, Nicholas J., Ballif, Blake C., Lamb, Allen N., Parikh, Sumit, Ravnan, J. Britt, Schultz, Roger A., Torchia, Beth S., Rosenfeld, Jill A., Shaffer, Lisa G.
Publicado 2011Texto -
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes por Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S
Publicado 2012Texto