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Genomic characterization of DICER1-associated neoplasms uncovers molecular classes
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes
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Genomic characterization of DICER1-associated neoplasms uncovers molecular classes

Kommoss, Felix K. F ; Chong, Anne Sophie ; Chong, Anne Laure ; Pfaff, Elke ; Jones, David T. W ; Hiemcke Jiwa, Laura S ; Kester, Lennart A ; Flucke, Uta ; Gessler, Manfred ; Schrimpf, Daniel ; Sahm, Felix ; Clarke, Blaise A ; Stewart, Colin J. R ; Wang, Yemin ; Gilks, C. Blake ; Kommoss, Friedrich ; Huntsman, David G ; Schüller, Ulrich ; Koelsche, Christian ; Mccluggage, W. Glenn ; Deimling, Andreas von ; Foulkes, William D

Springer Science and Business Media LLC 2023-03

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2
The Primary Microglial Leukodystrophies: A Review
The Primary Microglial Leukodystrophies: A Review
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The Primary Microglial Leukodystrophies: A Review

Ferrer, Isidro (Ferrer Abizanda)

MDPI AG 2022-06

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3
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome
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Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

Dueñas, Nuria ; Klinkhammer, Hannah ; Bonifaci Cano, Núria ; Spier, Isabel ; Mayr, Andreas ; Hassanin, Emadeldin ; Díez Villanueva, Anna ; Moreno Aguado, Víctor ; Pineda, Marta ; Maj, Carlo ; Capellà, Gabriel ; Aretz, Stefan ; Brunet, Joan

BMJ Publishing Group 2023-10

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4
CD200 genotype is associated with clinical outcome of patients with multiple myeloma
CD200 genotype is associated with clinical outcome of patients with multiple myeloma
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CD200 genotype is associated with clinical outcome of patients with multiple myeloma

González Montes, Yolanda ; Osca Gelis, Gemma ; Rodríguez Romanos, Rocío ; Villavicencio, Alicia ; González Bártulos, Marta ; Llopis, Francesca ; Clapes, Victòria ; Oriol, Albert ; Sureda, Anna ; Escoda, Lourdes ; Sarrà, Josep ; Garzó, Ana ; Lloveras, Natàlia ; Gómez, Beatriz ; Granada, Isabel ; Gallardo, David

Frontiers Media SA 2024-02

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5
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve
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A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve

Siguero Álvarez, Marcos ; Salguero Jiménez, Alejandro ; Grego Bessa, Joaquim ; Barrera, Jorge de la ; Macgrogan, Donal ; Prados, Belén ; Sánchez Sáez, Fernando ; Piñeiro Sabarís, Rebeca ; Felipe Medina, Natalia ; Torroja, Carlos ; Gómez, Manuel José ; Sabater Molina, María ; Escribá, Rubén ; Richaud Patin, Ivonne ; Iglesias García, Olalla ; Sbroggio, Mauro ; Callejas, Sergio ; O’regan, Declan P ; Mcgurk, Kathryn A ; Dopazo, Ana ; Giovinazzo, Giovanna ; Ibañez, Borja ; Monserrat, Lorenzo ; Pérez Pomares, José María ; Sánchez Cabo, Fátima ; Pendas, Alberto M ; Raya, Angel ; Gimeno Blanes, Juan R ; Pompa, José Luis de la

Ovid Technologies (Wolters Kluwer Health) 2022-11

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6
eDiVA - Classification and prioritization of pathogenic variants for clinical diagnostics
eDiVA - Classification and prioritization of pathogenic variants for clinical diagnostics
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eDiVA - Classification and prioritization of pathogenic variants for clinical diagnostics

Bosio, Mattia ; Drechsel, Oliver ; Rahman, Rubayte ; Muyas, Francesc ; Rabionet Janssen, Raquel ; Bezdan, Daniela ; Domenech Salgado, Laura ; Hor, Hyun G ; Schott, Jean-Jacques ; Munell Casadesús, Francina ; Colobran, Roger ; Macaya Ruiz, Alfons ; Estivill, Xavier, 1955 ; Ossowski, Stephan

Wiley 2019-04

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7
Congenital extrahepatic portosystemic shunts (Abernethy malformation): An international observational study
Congenital extrahepatic portosystemic shunts (Abernethy malformation): An international observational study
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Congenital extrahepatic portosystemic shunts (Abernethy malformation): An international observational study

Baiges Aznar, Anna ; Turon, Fanny ; Simón Talero, Macarena ; Tasayco, Stephanie ; Bueno, Javier ; Zekrini, Kamal ; Plessier, Aurélie ; Franchi-Abella, Stéphanie ; Guerin, Florent ; Mukund, Amar ; Eapen, C.E ; Goel, Ashish ; Shyamkumar, Nidugala K ; Coenen, Sandra ; Gottardi, Andrea de ; Majumdar, Avik ; Onali, Simona ; Shukla, Akash ; Carrilho, Flair José ; Nacif, Lucas ; Primignani, Massimo ; Tosetti, Giulia ; La Mura, Vincenzo ; Nevens, Frederick ; Witters, Peter ; Tripathi, Dhiraj ; Tellez, Luis ; Martínez González, Javier ; Álvarez-Navascués, Carmen ; López Fraile López, Miguel ; Procopet, Bogdan ; Piscaglia, Fabio ; Koning, Barbara de ; Llop, Elba ; Romero Cristobal, Mario ; Tjwa, Eric ; Monescillo-Francia, Alberto ; Senzolo, Marco ; Perez-LaFuente, Mercedes ; Garcia Criado, María Ángeles ; Segarra, Antonio ; Kumar Sarin, Shiv ; Hernández Gea, Virginia ; Patch, David ; Laleman, Wim ; Hartog, Hermien ; Valla, Dominique ; Genescà, Joan ; García Pagán, Juan Carlos

Wiley 2019-06

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8
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
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Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

Álvarez-Mora, María Isabel ; Sánchez, Aurora ; Rodríguez-Revenga, Laia ; Corominas, Jordi ; Rabionet Janssen, Raquel ; Puig i Sardà, Susana ; Madrigal, Irene

BioMed Central 2022-02

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9
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Verdura, Edgard ; Rodríguez Palmero, Agustí ; Vélez Santamaría, Valentina ; Planas Serra, Laura ; Calle, Irene de la ; Raspall Chaure, Miquel ; Roubertie, Agathe ; Benkirane, Mehdi ; Saettini, Francesco ; Pavinato, Lisa ; Mandrile, Giorgia ; O’leary, Melanie ; O’heir, Emily ; Barredo, Estibaliz ; Chacón, Almudena ; Michaud, Vincent ; Goizet, Cyril ; Ruiz, Montserrat ; Schlüter, Agatha ; Rouvet, Isabelle ; Sala Coromina, Júlia ; Fossati, Chiara ; Iascone, Maria ; Canonico, Francesco ; Marcé Grau, Anna ; Souza, Precilla de ; Adams, David ; Casasnovas Pons, Carlos ; Rehm, Heidi L ; Mefford, Heather C ; González Gutiérrez-Solana, Luis ; Brusco, Alfredo ; Koenig, Michel ; Macaya, Alfons ; Pujol, Aurora

Oxford University Press (OUP) 2021-08

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10
Translational medicine in hereditary hemorrhagic telangiectasia
Translational medicine in hereditary hemorrhagic telangiectasia
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Translational medicine in hereditary hemorrhagic telangiectasia

Riera Mestre, Antoni ; Cerdà, Pau ; Iriarte, Adriana ; Graupera i Garcia-Milà, Mariona ; Viñals Canals, Francesc

Elsevier B.V 2021-09

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