Ngā hua rapu - Hauser, Natalie

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

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