Search Results - Mehta, Lakshmi

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  1. 1
    17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature

    17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature by Cohen, Lilian, Samanich, Joy, Pan, Quilu, Mehta, Lakshmi, Marion, Robert

    Published 2012
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  2. 2
    Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA

    Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA by Reiner, Jennifer, Karger, Lisa, Cohen, Ninette, Mehta, Lakshmi, Edelmann, Lisa, Scott, Stuart A.

    Published 2017
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  3. 3
    Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

    Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy by Maya, Tania Ruiz, Fettig, Veronica, Mehta, Lakshmi, Gelb, Bruce D., Kontorovich, Amy R.

    Published 2021
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  4. 4
    46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

    46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1 by Brandt, Tracy, Blanchard, Leah, Desai, Khyati, Nimkarn, Saroj, Cohen, Ninette, Edelmann, Lisa, Mehta, Lakshmi

    Published 2013
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  5. 5
    Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

    Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation by Schussler, Edith, Linkner, Rita V, Levitt, Jacob, Mehta, Lakshmi, Martignetti, John A, Oishi, Kimihiko

    Published 2018
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  6. 6
    Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

    Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints by Shi, Lisong, Bai, Yan, Kharbutli, Yara, Oza, Andrea M., Amr, Sami S., Edelmann, Lisa, Mehta, Lakshmi, Scott, Stuart A.

    Published 2019
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  7. 7
    CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

    CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein by Slavotinek, Anne, Kaylor, Julie, Pierce, Heather, Cahr, Michelle, DeWard, Stephanie J., Schneidman-Duhovny, Dina, Alsadah, Adnan, Salem, Fadi, Schmajuk, Gabriela, Mehta, Lakshmi

    Published 2015
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  8. 8
    Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

    Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease by Weisfeld-Adams, James D, Mehta, Lakshmi, Rucker, Janet C, Dembitzer, Francine R, Szporn, Arnold, Lublin, Fred D, Introne, Wendy J, Bhambhani, Vikas, Chicka, Michael C, Cho, Catherine

    Published 2013
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  9. 9
    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

    Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy by Yang, Amy C., Ng, Bobby G., Moore, Steven A., Rush, Jeffrey, Waechter, Charles J., Raymond, Kimiyo M., Willer, Tobias, Campbell, Kevin P., Freeze, Hudson H., Mehta, Lakshmi

    Published 2013
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  10. 10
    ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories

    ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories by Wang, Jinlian, Liao, Jun, Zhang, Jinglan, Cheng, Wei-Yi, Hakenberg, Jörg, Ma, Meng, Webb, Bryn D., Ramasamudram-chakravarthi, Rajasekar, Karger, Lisa, Mehta, Lakshmi, Kornreich, Ruth, Diaz, George A., Li, Shuyu, Edelmann, Lisa, Chen, Rong

    Published 2015
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  11. 11
    In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

    In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis by Koboldt, Daniel C., Kastury, Rama D., Waldrop, Megan A., Kelly, Benjamin J., Mosher, Theresa Mihalic, McLaughlin, Heather, Corsmeier, Don, Slaughter, Jonathan L., Flanigan, Kevin M., McBride, Kim L., Mehta, Lakshmi, Wilson, Richard K., White, Peter

    Published 2018
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  12. 12
    Expansion of phenotype and genotypic data in CRB2-related syndrome

    Expansion of phenotype and genotypic data in CRB2-related syndrome by Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathryn J, Krall, Max, Mehta, Lakshmi, Rodan, Lance H, Saller, Devereux N, Steele, Deanna, Stein, Deborah, Yatsenko, Svetlana A, Bernier, François P, Slavotinek, Anne M

    Published 2016
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  13. 13
    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

    Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations by Johnston, Jennifer J., Sapp, Julie C., Turner, Joyce T., Amor, David, Aftimos, Salim, Aleck, Kyrieckos A., Bocian, Maureen, Bodurtha, Joann N., Cox, Gerald F., Curry, Cynthia J., Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M., Hedera, Peter, Hennekam, Raoul C.M., Hersh, Joseph H., Hopkin, Robert J., Kayserili, Hülya, Kidd, Alexa M.J., Kimonis, Virginia, Lin, Angela E., Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H., Rope, Alan F., Rosenbaum, Kenneth N., Schaefer, G. Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J., Steiner, Bernhard, Stephan, Mark J., Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I., Vasudevan, Pradeep C., Zabel, Bernhard, Zunich, Janice, Black, Graeme C.M., Biesecker, Leslie G.

    Published 2010
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