Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus

por Velazquez, Danitza, Pereira, Elaine, Havranek, Thomas
Publicado 2015

Expanding the phenotype of ATP6AP1 deficiency

por Barua, Subit, Berger, Sara, Pereira, Elaine M., Jobanputra, Vaidehi
Publicado 2022

Familial inheritance of the 3q29 microdeletion syndrome: case report and review

por Khan, Wahab A., Cohen, Ninette, Scott, Stuart A., Pereira, Elaine M.
Publicado 2019

A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

por Lippa, Natalie C., Barua, Subit, Aggarwal, Vimla, Pereira, Elaine, Bain, Jennifer M.
Publicado 2021

3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

por Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun
Publicado 2022

Influence of Pulsed Arc Parameters on the Tig Welding Process for the Stainless Steel Duplex UNS S31803

por Generoso, Vinicius Marques Alves, de Souza, Lucas Menezes, Pereira, Elaine Cristina, Monteiro, Sergio N., de Azevedo, Afonso R. G.
Publicado 2023

Biofilm Formation by Chromoblastomycosis Fungi Fonsecaea pedrosoi and Phialophora verrucosa: Involvement with Antifungal Resistance

por Sousa, Ingrid S., Mello, Thaís P., Pereira, Elaine P., Granato, Marcela Q., Alviano, Celuta S., Santos, André L. S., Kneipp, Lucimar F.
Publicado 2022

A Review of the Use of Natural Fibers in Cement Composites: Concepts, Applications and Brazilian History

por Lilargem Rocha, Diego, Tambara Júnior, Luís Urbano Durlo, Marvila, Markssuel Teixeira, Pereira, Elaine Cristina, Souza, Djalma, de Azevedo, Afonso Rangel Garcez
Publicado 2022

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl

por Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Publicado 2022

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

por Malinowski, Jennifer, Miller, David T., Demmer, Laurie, Gannon, Jennifer, Pereira, Elaine Maria, Schroeder, Molly C., Scheuner, Maren T., Tsai, Anne Chun-Hui, Hickey, Scott E., Shen, Jun
Publicado 2020

Detraining and Anabolic-Androgenic Steroid Discontinuation Change Calcaneal Tendon Morphology

por Santana Oliveira, Anderson José, Batista e Silva, Lívia Larissa, Barin, Fabrício Reichert, Leite Pereira, Elaine Cristina, Selistre-de-Araujo, Heloisa Sobreiro, de Cássia Marqueti, Rita
Publicado 2018

A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review

por Ma, Deqiong, Marion, Robert, Punjabi, Netra Prasad, Pereira, Elaine, Samanich, Joy, Agarwal, Chhavi, Li, Jianli, Huang, Chih-Kang, Ramesh, K H, Cannizzaro, Linda A, Naeem, Rizwan
Publicado 2014

Oxidative Stress, Inflammation, and Activators of Mitochondrial Biogenesis: Tempol Targets in the Diaphragm Muscle of Exercise Trained-mdx Mice

por da Silva, Heloina Nathalliê Mariano, Covatti, Caroline, da Rocha, Guilherme Luiz, Mizobuti, Daniela Sayuri, Mâncio, Rafael Dias, Hermes, Túlio de Almeida, Kido, Larissa Akemi, Cagnon, Valéria Helena Alves, Pereira, Elaine Cristina Leite, Minatel, Elaine
Publicado 2021

Accidental falls in middle-aged women

por Stolt, Lígia Raquel Ortiz Gomes, Kolish, Daniel Vieira, Cardoso, Maria Regina Alves, Tanaka, Clarice, Vasconcelos, Erika Flauzino Silva, Pereira, Elaine Cristina, Dellú, Máyra Cecilia, Pereira, Wendry Maria Paixão, Aldrighi, José Mendes, Schmitt, Ana Carolina Basso
Publicado 2020

Leucine minimizes denervation-induced skeletal muscle atrophy of rats through akt/mtor signaling pathways

por Ribeiro, Carolina B., Christofoletti, Daiane C., Pezolato, Vitor A., de Cássia Marqueti Durigan, Rita, Prestes, Jonato, Tibana, Ramires A., Pereira, Elaine C. L., de Sousa Neto, Ivo V., Durigan, João L. Q., da Silva, Carlos A.
Publicado 2015

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

por Rönkkö, Julius, Molchanova, Svetlana, Revah‐Politi, Anya, Pereira, Elaine M., Auranen, Mari, Toppila, Jussi, Kvist, Jouni, Ludwig, Anastasia, Neumann, Julika, Bultynck, Geert, Humblet‐Baron, Stéphanie, Liston, Adrian, Paetau, Anders, Rivera, Claudio, Harms, Matthew B., Tyynismaa, Henna, Ylikallio, Emil
Publicado 2020

COVID-19’s Impact on Genetics at One Medical Center in New York

por Pereira, Elaine M., Ahimaz, Priyanka, Andrews, Carli, Anyane-Yeboa, Kwame, Arsov, Todor, Berger, Sara M., Chilton, Ilana, Cory, Diana M., Chung, Wendy K., Dergham, Katia R., Disco, Michele M., Ernst, Michelle E., Forman, Tamar, Galloway, Stephanie, Geltzeiler, Alexa R., Giordano, Jessica L., Griffin, Emily, Guzman, Edwin, Harkavy, Nina, Hernan, Rebecca, Hetzler, Anah K., Iglesias, Alejandro, Kakar, Rupinder, Kentros, Catherine, Khonje, Thandiwe C., Koval, Carrie, Levinson, Elana, Pereira, Elaine M., Robinson, Scott, Ross, Meredith J., Sadeque-Iqbal, Fatema, Spiegel, Erica, Spitz, Elana, Wapner, Ronald J., Chung, Wendy K.
Publicado 2020

SARS-CoV-2 Spike protein alters microglial purinergic signaling

por Alves, Vinícius Santos, Santos, Stephanie Alexia Cristina Silva, Leite-Aguiar, Raíssa, Paiva-Pereira, Elaine, dos Reis, Renata Rodrigues, Calazans, Mariana L., Fernandes, Gabriel Gripp, Antônio, Leticia Silva, de Lima, Emanuelle V., Kurtenbach, Eleonora, Silva, Jerson Lima, Fontes-Dantas, Fabricia Lima, Passos, Giselle Fazzioni, Figueiredo, Cláudia Pinto, Coutinho-Silva, Robson, Savio, Luiz Eduardo Baggio
Publicado 2023