Kết quả tìm kiếm - Hauser, Natalie

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

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

lấy văn bản lấy văn bản lấy văn bản

Whole exome sequence analysis of Peters anomaly Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female Bằng 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

lấy văn bản lấy văn bản lấy văn bản

De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility Bằng 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

lấy văn bản lấy văn bản lấy văn bản

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria Bằng 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.

lấy văn bản lấy văn bản lấy văn bản

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations Bằng 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

lấy văn bản lấy văn bản lấy văn bản

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation Bằng 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.

lấy văn bản lấy văn bản lấy văn bản