Resultats de la cerca - Hauser, Natalie

A case study of atypical Larsen syndrome with absent hallmark joint dislocations per Kodra, Neslida, Diamonstein, Callie, Hauser, Natalie S.

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Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause per Bodian, Dale L., Vilboux, Thierry, Hauser, Natalie S.

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New frontiers in neuroimaging applications to inborn errors of metabolism per Prust, Morgan J., Gropman, Andrea L., Hauser, Natalie

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Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations(1)(2)(3)(4) per Hauser, Natalie S, Manoli, Irini, Graf, Jennifer C, Sloan, Jennifer, Venditti, Charles P

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Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures per Bodian, Dale L., Schreiber, John M., Vilboux, Thierry, Khromykh, Alina, Hauser, Natalie S.

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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital per Hauser, Natalie S., Solomon, Benjamin D., Vilboux, Thierry, Khromykh, Alina, Baveja, Rajiv, Bodian, Dale L.

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Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants per Kane, Megan S., Diamonstein, Callie J., Hauser, Natalie, Deeken, John F., Niederhuber, John E., Vilboux, Thierry

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Delineating the Spectrum of Impairments, Disabilities, and Rehabilitation Needs in Methylmalonic Acidemia (MMA) per Ktena, Yiouli P., Paul, Scott M., Hauser, Natalie S., Sloan, Jennifer L., Gropman, Andrea, Manoli, Irini, Venditti, Charles P.

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Deletion of GPIHBP1 causing severe chylomicronemia per Rios, Jonathan J., Shastry, Savitha, Jasso, Juan, Hauser, Natalie, Garg, Abhimanyu, Bensadoun, André, Cohen, Jonathan C., Hobbs, Helen H.

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Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis per Raval, Donna B., Cusmano-Ozog, Kristina P., Ayyub, Omar, Jenevein, Callie, Kofman, Laura H., Lanpher, Brendan, Hauser, Natalie, Regier, Debra S.

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Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy per Bodian, Dale L., Vilboux, Thierry, Hourigan, Suchitra K., Jenevein, Callie L., Mani, Haresh, Kent, Kathleen C., Khromykh, Alina, Solomon, Benjamin D., Hauser, Natalie S.

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Whole exome sequence analysis of Peters anomaly per Weh, Eric, Reis, Linda M., Happ, Hannah C., Levin, Alex V., Wheeler, Patricia G., David, Karen L., Carney, Erin, Angle, Brad, Hauser, Natalie, Semina, Elena V.

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Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female per Brown, Madalyn, Ashcraft, Paula, Arning, Erland, Bottiglieri, Teodoro, McClintock, William, Giancola, Frank, Lieberman, David, Hauser, Natalie S., Miller, Rebecca, Roullet, Jean‐Baptiste, Pearl, Phillip, Gibson, K. Michael

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De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism per Shang, Linshan, Henderson, Lindsay B., Cho, Megan T., Petrey, Donald S., Fong, Chin-To, Haude, Katrina M., Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette, Jane, Wu, Yvonne W., Asaikar, Shailesh, Pearson, Margaret, Folk, Leandra, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.

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MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) per Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam

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Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 per Strickland, Alleene V., Schabhüttl, Maria, Offenbacher, Hans, Synofzik, Matthis, Hauser, Natalie S., Brunner-Krainz, Michaela, Gruber-Sedlmayr, Ursula, Moore, Steven A., Windhager, Reinhard, Bender, Benjamin, Harms, Matthew, Klebe, Stephan, Young, Peter, Kennerson, Marina, Garcia, Avencia Sanchez Mejias, Gonzalez, Michael A., Züchner, Stephan, Schule, Rebecca, Shy, Michael E., Auer-Grumbach, Michaela

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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility per Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan

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Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria per Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.

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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations per Huemer, Martina, Karall, Daniela, Schossig, Anna, Abdenur, Jose E., Jasmi, Fatma Al, Biagosch, Caroline, Distelmaier, Felix, Freisinger, Peter, Graham, Brett H., Haack, Tobias B., Hauser, Natalie, Hertecant, Jozef, Ebrahimi-Fakhari, Darius, Konstantopoulou, Vassiliki, Leydiker, Karen, Lourenco, Charles M., Scholl-Bürgi, Sabine, Wilichowski, Ekkehard, Wolf, Nicole I., Wortmann, Saskia B., Taylor, Robert W., Mayr, Johannes A., Bonnen, Penelope E., Sperl, Wolfgang, Prokisch, Holger, McFarland, Robert

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SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation per Zaman, Tariq, Helbig, Katherine L., Clatot, Jérôme, Thompson, Christopher H., Kang, Seok Kyu, Stouffs, Katrien, Jansen, Anna E., Verstraete, Lieve, Jacquinet, Adeline, Parrini, Elena, Guerrini, Renzo, Fujiwara, Yuh, Miyatake, Satoko, Ben-Zeev, Bruria, Bassan, Haim, Reish, Orit, Marom, Daphna, Hauser, Natalie, Vu, Thuy-Anh, Ackermann, Sally, Spencer, Careni E., Lippa, Natalie, Srinivasan, Shraddha, Charzewska, Agnieszka, Hoffman-Zacharska, Dorota, Fitzpatrick, David, Harrison, Victoria, Vasudevan, Pradeep, Joss, Shelagh, Pilz, Daniela T., Fawcett, Katherine A., Helbig, Ingo, Matsumoto, Naomichi, Kearney, Jennifer A., Fry, Andrew E., Goldberg, Ethan M.

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