Sara Alvarez de Andres - NIMGenetics Geomica y Medicina SL

基本信息

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职业迁徙

个人简介

Medical Director at NIMGenetics, where she carries out a genetic diagnosis activity based on different genomic platforms.

研究兴趣

论文共 101 篇作者统计合作学者相似作者

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Etiological Involvement of KCND1 Variants in an X-linked Neurodevelopmental Disorder with Variable Expressivity

Tassja Kalm,Claudia Schob, Hanna Voeller,Thatjana Gardeitchik,Christian Gilissen,Rolph Pfundt,Chiara Kloeckner,Konrad Platzer,Annick Klabunde-Cherwon,Markus Ries,Steffen Syrbe,Francesca Beccaria,Francesca Madia,Marcello Scala,Federico Zara,Floris Hofstede,Marleen E. H. Simon,Richard H. van Jaarsveld,Renske Oegema,Koen L. I. van Gassen,Sjoerd J. B. Holwerda,Tahsin Stefan Barakat,Arjan Bouman,Marjon van Slegtenhorst,Sara Alvarez,Alberto Fernandez-Jaen, Javier Porta,Andrea Accogli,Margherita Maria Mancardi,Pasquale Striano,Michele Iacomino,Jong-Hee Chae,SeSong Jang,Soo Y. Kim,David Chitayat,Saadet Mercimek-Andrews,Christel Depienne,Antje Kampmeier,Alma Kuechler,Harald Surowy,Enrico Silvio Bertini,Francesca Clementina Radio,Cecilia Mancini,Simone Pizzi,Marco Tartaglia, Lucas Gauthier,David Genevieve,Mylene Tharreau,Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad,Naama Orenstein,Genevieve Bernard,Isabelle Thiffault,Jonas Denecke,Theresia Herget,Fanny Kortum,Christian Kubisch,Robert Bahring,Stefan Kindler

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024)

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Tatton-Brown-Rahman Syndrome: Novel Pathogenic Variants and New Neuroimaging Findings

Mar Jimenez de la Pena,Irene Rincon-Perez,Sara Lopez-Martin,Jacobo Albert,Daniel Martin Fernandez-Mayoralas,Ana Laura Fernandez-Perrone,Ana Jimenez de Domingo,Pilar Tirado,Beatriz Calleja-Perez, Javier Porta,Sara Alvarez,Alberto Fernandez-Jaen

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）

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Supplementary Table S2 from Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer

Lorenzo Melchor,Emiliano Honrado, Jia Huang,Sara Álvarez,Tara L. Naylor, María Jesús Márquez García, Ana Osorio,David Blesa,Michael R. Stratton, Barbara L. Weber, Juan C. Cigudosa,Nazneen Rahman,Katherine L. Nathanson,Javier Benı́tez

openalex（2023）

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Supplementary Table S3 from Estrogen Receptor Status Could Modulate the Genomic Pattern in Familial and Sporadic Breast Cancer

Lorenzo Melchor,Emiliano Honrado, Jia Huang,Sara Álvarez,Tara L. Naylor, María J. García,Ana Osorio,David Blesa, Michael R. Stratton,Barbara L. Weber,Juan C. Cigudosa,Nazneen Rahman,Katherine L. Nathanson,Javier Benítez

crossref（2023）

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Diagnostic yield of exome trio analysis to identify the genetic etiology in 804 previously undiagnosed cases

Irene Diez,Monica Martinez-Garcia, Celia Rodriguez,Marta Hervas, Andrea de la Fuente, Guillermo Martin,Angel Carro,Pablo Solar,David Rodriguez,Maria Calvente,Paolo Maietta,Sara Alvarez, Maria Garcia

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 183-183

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Supplementary Table 1 from Hematologic β-Tubulin VI Isoform Exhibits Genetic Variability That Influences Paclitaxel Toxicity

Luis J. Leandro‐García,Susanna Leskelä,Lucía Inglada-Pérez,Iñigo Landa,Aguirre A. de Cubas,Agnieszka Maliszewska,Iñaki Comino-Méndez,Rocío Letón,Álvaro Gómez-Graña,Raul M. Torres,Juan Carlos Ramírez,Sara Álvarez, José A. Rivera,Constantino Martı́nez,Marı́a Luisa Lozano,Alberto Cascón,Mercedes Robledo,Cristina Rodríguez‐Antona

openalex（2023）

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Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature

Elena Martinez-Cayuelas,Isabel Lorda,Fiona Blanco-Kelly,Rosario Lopez-Rodriguez,Fermina Lopez-Grondona,Saoud Tahsin-Swafiri, Rebeca Losada,Beatriz Moreno,Maria Rodrigo,Carmen Ayuso,Aitor Lopez-Gonzalez,Antonio Martinez-Monseny,Irene Valenzuela Palafoll,Anna Maria Cueto-Gonzalez,Sixto Garcia-Minaur,Fernando Santos-Simarro,Jaime Cruz,Juan Francisco Quesada Espinosa,Jaime Sanchez del Pozo,Ana Rosa Arteche Lopez,Blanca Gener Querol,Isabel Llano Rivas,Alberto Fernandez-Jaen, Raquel Bernardo Fonz,Sergio Aguilera Albesa,Pablo Prieto,Javier Lopez Pison,Vanessa Lopez,Ignacio Malaga,Maria Palomares Bralo,Soraya Ramiro Leon, Beatriz Martinez Menendez, Belen Gil-Fourier,Jesus Eiris, Juan Jose, Garcia Penas, Begona De Azua Brea,Nadia Irazabal,Irene Madrigal,Maria Isabel Alvarez,Sara Alvarez, Maria Garcia,Berta Almoguera Castillo

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 461-462

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Supplementary Figure 1 from the Accumulation of Specific Amplifications Characterizes Two Different Genomic Pathways of Evolution of Familial Breast Tumors

Lorenzo Melchor,Sara Álvarez,Emiliano Honrado, José Palacios,Alicia Barroso,Orland Dı́ez, Ana Osorio,Javier Benı́tez

openalex

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