Risultati della ricerca - Posey, Jennifer

Genome sequencing and implications for rare disorders di Posey, Jennifer E.

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Understanding how the V(D)J recombinase catalyzes transesterification: distinctions between DNA cleavage and transposition di Lu, Catherine P., Posey, Jennifer E., Roth, David B.

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A Case Report of Calcium-Sensing Receptor Gene Variant and Primary Hyperparathyroidism di Joad, Sabaa Salim, Fang, Mary Emily, Posey, Jennifer E, Gaba, Ruchi

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Target DNA Structure Plays a Critical Role in RAG Transposition di Posey, Jennifer E, Pytlos, Malgorzata J, Sinden, Richard R, Roth, David B

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Clinical genomics and contextualizing genome variation in the diagnostic laboratory. di Lupski, James R., Liu, Pengfei, Stankiewicz, Pawel, Carvalho, Claudia M. B., Posey, Jennifer E.

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Triploidy Mosaicism (45,X/68,XX) in an Infant Presenting with Failure to Thrive di Posey, Jennifer E., Mohrbacher, Nikki, Smith, Janice L., Patel, Ankita, Potocki, Lorraine, Breman, Amy M.

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Dominant Transmission Observed in Adolescents and Families with Orthostatic Intolerance di Posey, Jennifer E., Martinez, Rebecca, Lankford, Jeremy E., Lupski, James R., Numan, Mohammed T., Butler, Ian J.

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Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome di Posey, Jennifer E., Dariya, Vedanta, Edmonds, Joseph L., Lee, Edward I., Probst, Frank J., Premkumar, Muralidhar H.

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22q11.2q13 Duplication Including SOX10 causes Sex-reversal and Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome and Hirschsprung Dis... di Falah, Nadia, Posey, Jennifer E., Thorson, Willa, Benke, Paul, Tekin, Mustafa, Tarshish, Brocha, Lupski, James R, Harel, Tamar

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Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa) di Mubungu, Gerrye, Makay, Prince, Boujemla, Bouchra, Yanda, Stephane, Posey, Jennifer E., Lupski, James R., Bours, Vincent, Lukusa, Prosper, Devriendt, Koenraad, Lumaka, Aimé

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Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome di Wild, K. Taylor, Gordon, Tia, Bhoj, Elizabeth J., Du, Haowei, Jhangiani, Shalini N., Posey, Jennifer E., Lupski, James R., Scott, Daryl A., Zackai, Elaine H.

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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research di Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E., Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M., Campeau, Philippe M., Bellen, Hugo J.

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Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: clinical gene panels versus genome-wide approaches to molecular diagnosis di Punetha, Jaya, Mackay-Loder, Loren, Harel, Tamar, Coban-Akdemir, Zeynep, Jhangiani, Shalini N, Gibbs, Richard A, Lee, Ian, Terespolsky, Deborah, Lupski, James R, Posey, Jennifer E

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Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome di Posey, Jennifer E., Burrage, Lindsay C., Campeau, Philippe M., Lu, James T., Eble, Tanya N., Kratz, Lisa, Schlesinger, Alan E., Gibbs, Richard A., Lee, Brendan H., Nagamani, Sandesh CS.

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A COMPREHENSIVE CLINICAL AND GENETIC STUDY IN 127 PATIENTS WITH ID IN KINSHASA, DR CONGO di Lumaka, Aimé, Race, Valerie, Peeters, Hilde, Corveleyn, Anniek, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Xiaofei, Song, Mubungu, Gerrye, Posey, Jennifer, Lupski, James R, Vermeesch, Joris R, Lukusa, Prosper, Devriendt, Koenraad

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Lysinuric protein intolerance presenting with multiple fractures di Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee, Brendan H.

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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data di Wohler, Elizabeth, Martin, Renan, Griffith, Sean, Rodrigues, Eliete da S., Antonescu, Corina, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Doheny, Kimberly F., Lupski, James R., Valle, David, Hamosh, Ada, Sobreira, Nara

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Exome variant discrepancies due to reference-genome differences di Li, He, Dawood, Moez, Khayat, Michael M., Farek, Jesse R., Jhangiani, Shalini N., Khan, Ziad M., Mitani, Tadahiro, Coban-Akdemir, Zeynep, Lupski, James R., Venner, Eric, Posey, Jennifer E., Sabo, Aniko, Gibbs, Richard A.

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Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy di Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.

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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities di Karaca, Ender, Posey, Jennifer E., Bostwick, Bret, Liu, Pengfei, Gezdirici, Alper, Yesil, Gozde, Akdemir, Zeynep Coban, Bayram, Yavuz, Harms, Frederike Leonie, Meinecke, Peter, Alawi, Malik, Bacino, Carlos A., Sutton, V. Reid, Kortum, Fanny, Lupski, James. R.

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