Search Results - "Mínguez Rodríguez, Beatriz"

Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function by Domínguez‐Carral, Jana, Ludlam, William Grant, Junyent Segarra, Mar, Fornaguera Marti, Montserrat, Balsells, Sol, Muchart, Jordi, Čokolić Petrović, Dunja, Espinoza, Iván, Ortigoza‐Escobar, Juan Dario, Martemyanov, Kirill A., Armstrong, Judith, Blanco‐Lago, Raquel, Bou, Rosa, Cáceres‐Marzal, Cristina, Cancho‐Candela, Ramón, Candela, Santiago, Darling, Alejandra, Los Santos, Mariela Mercedes, García‐Cazorla, Angels, Martí‐Carrera, Itxaso, Martorell, Loreto, Mateos Checa, Rosario, Meavilla, Silvia, Mínguez Rodríguez, Beatriz, Pantoja, Jorge, Pías, Leticia, Parra Plantagenet‐Whyte, Fátima, Pinillos, Sergio, Ruiz‐Hernández, Carlos José, Rumià, Jordi, Caballero Pérez, Victoria, Salvador Cañibano, Maria, Yubero, Delia

“…Objective GNAO1‐related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual…”
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Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort by Mínguez Rodríguez, Beatriz, Molera Busoms, Cristina, Martorell Sampol, Loreto, García Romero, Ruth, Colomé Rivero, Gemma, Martín de Carpi, Javier

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Intestinal intussusception as a key sign of Celiac Disease. A pediatric case report by Mínguez Rodríguez, Beatriz, Montells Fuster, Sandra, Lomba Estévez, Marta, Molera Busoms, Cristina, Martín de Carpi, Javier

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Intestinal intussusception as a key sign of Celiac Disease. A pediatric case report by Mínguez Rodríguez, Beatriz, Montells Fuster, Sandra, Lomba Estévez, Marta, Molera Busoms, Cristina, Martín de Carpi, Javier

“…Intestinal intussusception is the most frequent cause of intestinal obstruction between 6 and 36 months of age, the majority being idiopathic. The association…”
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