نتائج البحث - Hauser, Natalie

A case study of atypical Larsen syndrome with absent hallmark joint dislocations حسب 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 حسب Bodian, Dale L., Vilboux, Thierry, Hauser, Natalie S.

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New frontiers in neuroimaging applications to inborn errors of metabolism حسب 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) حسب 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 حسب 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 حسب 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 حسب 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) حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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) حسب 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 حسب 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 حسب 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 حسب 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 حسب 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 حسب 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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