Zoekresultaten - Mehta, Lakshmi

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

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

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

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

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

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

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

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

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Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy door 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

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ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories door 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

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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis door 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

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Expansion of phenotype and genotypic data in CRB2-related syndrome door 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

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations door 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.

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