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Search Results - Bueno-Martinez, Inés
Search Results - Bueno-Martinez, Inés
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
by
Gil-Rodríguez, María Concepción
,
Deardorff, Matthew A.
,
Ansari, Morad
,
Tan, Christopher A.
,
Parenti, Ilaria
,
Baquero-Montoya, Carolina
,
Ousager, Lilian B.
,
Puisac, Beatriz
,
Hernández-Marcos, María
,
Teresa-Rodrigo, María Esperanza
,
Marcos-Alcalde, Iñigo
,
Wesselink, Jan-Jaap
,
Lusa-Bernal, Silvia
,
Bijlsma, Emilia K.
,
Braunholz, Diana
,
Bueno-Martinez, Inés
,
Clark, Dinah
,
Cooper, Nicola S.
,
Curry, Cynthia J.
,
Fisher, Richard
,
Fryer, Alan
,
Ganesh, Jaya
,
Gervasini, Cristina
,
Gillessen-Kaesbach, Gabriele
,
Guo, Yiran
,
Hakonarson, Hakon
,
Hopkin, Robert J.
,
Kaur, Maninder
,
Keating, Brendan J.
,
Kibaek, María
,
Kinning, Esther
,
Kleefstra, Tjitske
,
Kline, Antonie D.
,
Kuchinskaya, Ekaterina
,
Larizza, Lidia
,
Li, Yun R.
,
Liu, Xuanzhu
,
Mariani, Milena
,
Picker, Jonathan D.
,
Pié, Ángeles
,
Pozojevic, Jelena
,
Queralt, Ethel
,
Richer, Julie
,
Roeder, Elizabeth
,
Sinha, Anubha
,
Scott, Richard H.
,
So, Joyce
,
Wusik, Katherine A.
,
Wilson, Louise
,
Zhang, Jianguo
,
Gómez-Puertas, Paulino
,
Casale, César H.
,
Ström, Lena
,
Selicorni, Angelo
,
Ramos, Feliciano J.
,
Jackson, Laird G.
,
Krantz, Ian D.
,
Das, Soma
,
Hennekam, Raoul C.M.
,
Kaiser, Frank J.
,
FitzPatrick, David R.
,
Pié, Juan
Published in
Human mutation
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Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
by
Baquero-Montoya, Carolina
,
Gil-Rodríguez, María-Concepción
,
Hernández-Marcos, María
,
Teresa-Rodrigo, María-Esperanza
,
Vicente-Gabas, Alicia
,
Bernal, María-Luisa
,
Casale, Cesar-Horacio
,
Bueno-Lozano, Gloria
,
Bueno-Martínez, Inés
,
Queralt, Ethel
,
Villa, Olaya
,
Hernando-Davalillo, Cristina
,
Armengol, Lluís
,
Gómez-Puertas, Paulino
,
Puisac, Beatriz
,
Selicorni, Angelo
,
Ramos, Feliciano J
,
Pié, Juan
Published in
European journal of medical genetics
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Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3
by
Aurensanz Clemente, Esther
,
Ayerza Casas, Ariadna
,
García Lasheras, Cecilia
,
Ramos Fuentes, Feliciano
,
Bueno Martínez, Ines
,
Pelegrín Díaz, Juana
,
Ruiz Frontera, Pablo
,
Montserrat Iglesias, Lorenzo
Published in
Clinical case reports
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Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
by
Sanoguera-Miralles, Lara
,
Valenzuela-Palomo, Alberto
,
Bueno-Martínez, Elena
,
Esteban-Sánchez, Ada
,
Lorca, Víctor
,
Llinares-Burguet, Inés
,
García-Álvarez, Alicia
,
Pérez-Segura, Pedro
,
Infante, Mar
,
Easton, Douglas F
,
Devilee, Peter
,
Vreeswijk, Maaike P G
,
de la Hoya, Miguel
,
Velasco-Sampedro, Eladio A
Published in
Clinical chemistry (Baltimore, Md.)
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Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer‐rich regions and 38 spliceogenic variants
by
Sanoguera‐Miralles, Lara
,
Llinares‐Burguet, Inés
,
Bueno‐Martínez, Elena
,
Ramadane‐Morchadi, Lobna
,
Stuani, Cristiana
,
Valenzuela‐Palomo, Alberto
,
García‐Álvarez, Alicia
,
Pérez‐Segura, Pedro
,
Buratti, Emanuele
,
Hoya, Miguel
,
Velasco‐Sampedro, Eladio A
Published in
The Journal of pathology
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Minigene‐based splicing analysis and ACMG/AMP‐based tentative classification of 56 ATM variants
by
Bueno‐Martínez, Elena
,
Sanoguera‐Miralles, Lara
,
Valenzuela‐Palomo, Alberto
,
Esteban‐Sánchez, Ada
,
Lorca, Víctor
,
Llinares‐Burguet, Inés
,
Allen, Jamie
,
García‐Álvarez, Alicia
,
Pérez‐Segura, Pedro
,
Durán, Mercedes
,
Easton, Douglas F
,
Devilee, Peter
,
Vreeswijk, Maaike PG
,
Hoya, Miguel
,
Velasco‐Sampedro, Eladio A
Published in
The Journal of pathology
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Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3
by
Aurensanz Clemente, Esther
,
Ayerza Casas, Ariadna
,
García Lasheras, Cecilia
,
Ramos Fuentes, Feliciano
,
Bueno Martínez, Ines
,
Pelegrín Díaz, Juana
,
Ruiz Frontera, Pablo
,
Montserrat Iglesias, Lorenzo
Published in
Clinical case reports
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Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C
by
Sanoguera-Miralles, Lara
,
Bueno-Martínez, Elena
,
Valenzuela-Palomo, Alberto
,
Esteban-Sánchez, Ada
,
Llinares-Burguet, Inés
,
Pérez-Segura, Pedro
,
García-Álvarez, Alicia
,
de la Hoya, Miguel
,
Velasco-Sampedro, Eladio A
Published in
Cancers
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Polyphasic Approach to Bacterial Dynamics during the Ripening of Spanish Farmhouse Cheese, Using Culture-Dependent and -Independent Methods
by
Martín-Platero, Antonio M
,
Valdivia, Eva
,
Maqueda, Mercedes
,
Martín-Sánchez, Inés
,
Martínez-Bueno, Manuel
Published in
Applied and Environmental Microbiology
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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
by
Valenzuela-Palomo, Alberto
,
Sanoguera-Miralles, Lara
,
Bueno-Martínez, Elena
,
Esteban-Sánchez, Ada
,
Llinares-Burguet, Inés
,
García-Álvarez, Alicia
,
Pérez-Segura, Pedro
,
Gómez-Barrero, Susana
,
de la Hoya, Miguel
,
Velasco-Sampedro, Eladio A
Published in
Cancers
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Splicing Analysis of 16 IPALB2/I ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
by
Valenzuela-Palomo, Alberto
,
Sanoguera-Miralles, Lara
,
Bueno-Martínez, Elena
,
Esteban-Sánchez, Ada
,
Llinares-Burguet, Inés
,
García-Álvarez, Alicia
,
Pérez-Segura, Pedro
,
Gómez-Barrero, Susana
,
de la Hoya, Miguel
,
Velasco-Sampedro, Eladio A
Published in
Cancers
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