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Search Results - Teresa-Rodrigo, Maria Esperanza
Search Results - Teresa-Rodrigo, Maria Esperanza
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Special cases in Cornelia de Lange syndrome: The Spanish experience
by
Pié, Juan
,
Puisac, Beatriz
,
Hernández-Marcos, Maria
,
Teresa-Rodrigo, Maria Esperanza
,
Gil-Rodríguez, Maria
,
Baquero-Montoya, Carolina
,
Ramos-Cáceres, Maria
,
Bernal, Maria
,
Ayerza-Casas, Ariadna
,
Bueno, Inés
,
Gómez-Puertas, Paulino
,
Ramos, Feliciano J.
Published in
American journal of medical genetics. Part C, Seminars in medical genetics
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Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency
by
Puisac, Beatriz
,
Teresa-Rodrigo, María Esperanza
,
Arnedo, María
,
Gil-Rodríguez, María Concepción
,
Pérez-Cerdá, Celia
,
Ribes, Antonia
,
Pié, Ángeles
,
Bueno, Gloria
,
Gómez-Puertas, Paulino
,
Pié, Juan
Published in
Molecular genetics and metabolism
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Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
by
Wierzba, Jolanta
,
Gil-Rodríguez, María Concepción
,
Polucha, Anna
,
Puisac, Beatriz
,
Arnedo, María
,
Teresa-Rodrigo, María Esperanza
,
Winnicka, Dorota
,
Hegardt, Fausto G
,
Ramos, Feliciano J
,
Limon, Janusz
,
Pié, Juan
Published in
BMC genetics
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mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lan...
by
Puisac, Beatriz
,
Teresa-Rodrigo, María-Esperanza
,
Hernández-Marcos, María
,
Baquero-Montoya, Carolina
,
Gil-Rodríguez, María-Concepción
,
Visnes, Torkild
,
Bot, Christopher
,
Gómez-Puertas, Paulino
,
Kaiser, Frank J
,
Ramos, Feliciano J
,
Ström, Lena
,
Pié, Juan
Published in
International journal of molecular sciences
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New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
by
Ramos, Mónica
,
Menao, Sebastián
,
Arnedo, María
,
Puisac, Beatriz
,
Gil-Rodríguez, María Concepción
,
Teresa-Rodrigo, María Esperanza
,
Hernández-Marcos, María
,
Pierre, Germaine
,
Ramaswami, Uma
,
Baquero-Montoya, Carolina
,
Bueno, Gloria
,
Casale, Cesar
,
Hegardt, Fausto G
,
Gómez-Puertas, Paulino
,
Pié, Juan
Published in
European journal of medical genetics
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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway
by
Puisac, Beatriz
,
Ramos, Mónica
,
Arnedo, María
,
Menao, Sebastián
,
Gil-Rodríguez, María Concepción
,
Teresa-Rodrigo, María Esperanza
,
Pié, Angeles
,
de Karam, Juan Carlos
,
Wesselink, Jan-Jaap
,
Giménez, Ignacio
,
Ramos, Feliciano J.
,
Casals, Nuria
,
Gómez-Puertas, Paulino
,
Hegardt, Fausto G.
,
Pié, Juan
Published in
Molecular biology reports
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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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Cornelia de Lange syndrome: Congenital heart disease in 149 patients
by
Ayerza Casas, Ariadna
,
Puisac Uriol, Beatriz
,
Teresa Rodrigo, María Esperanza
,
Hernández Marcos, María
,
Ramos Fuentes, Feliciano J.
,
Pie Juste, Juan
Published in
Medicina clínica (English ed.)
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