Irene Valenzuela Palafoll
AuthID: R-00G-CT7
1
TÃTULO: MISSENSE MED12 VARIANTS IN 22 MALES WITH INTELLECTUAL DISABILITY: FROM NON-SPECIFIC SYMPTOMS TO COMPLETE SYNDROMES Full Text
AUTORES: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; ...Mais
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
AUTORES: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; ...Mais
PUBLICAÇÃO: 2023, FONTE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, NÚMERO: 13
INDEXADO EM: 
WOS
WOS2
TÃTULO: Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals Full Text
AUTORES: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...Mais
PUBLICAÇÃO: 2023, FONTE: HUMAN GENETICS
AUTORES: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...Mais
PUBLICAÇÃO: 2023, FONTE: HUMAN GENETICS
INDEXADO EM: 
Scopus WOS
Scopus WOS3
TÃTULO: Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology Full Text
AUTORES: Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P.; Filges, Isabel; Sparks, Teresa N.; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C.; Collardeau Frachon, Sophie; Dempsey, Esther A.; Dufke, Andreas; Duyzend, Michael Henri; el Ghosh, Mirna; Giordano, Jessica L.; Glad, Ragnhild; Grinfelde, Ieva; ...Mais
PUBLICAÇÃO: 2022, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
AUTORES: Dhombres, Ferdinand; Morgan, Patricia; Chaudhari, Bimal P.; Filges, Isabel; Sparks, Teresa N.; Lapunzina, Pablo; Roscioli, Tony; Agarwal, Umber; Aggarwal, Shagun; Beneteau, Claire; Cacheiro, Pilar; Carmody, Leigh C.; Collardeau Frachon, Sophie; Dempsey, Esther A.; Dufke, Andreas; Duyzend, Michael Henri; el Ghosh, Mirna; Giordano, Jessica L.; Glad, Ragnhild; Grinfelde, Ieva; ...Mais
PUBLICAÇÃO: 2022, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
INDEXADO EM: Scopus WOS
Scopus WOS4
TÃTULO: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes Full Text
AUTORES: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisabeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Maria; Chhouk, Brian H.; Yeh, Rebecca C.; ...Mais
PUBLICAÇÃO: 2022, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
AUTORES: Maia, Nuno; Ibarluzea, Nekane; Misra Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski Filppula, Riikka; Guitart, Miriam; Vila, Elisabeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa Aranzasti, Amaia; Cueto Gonzalez, Anna Maria; Chhouk, Brian H.; Yeh, Rebecca C.; ...Mais
PUBLICAÇÃO: 2022, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
INDEXADO EM: Scopus WOS
Scopus WOS5
TÃTULO: Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain Full Text
AUTORES: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 6
AUTORES: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 6
